BMD
MCID: MSC152
MIFTS: 69

Muscular Dystrophy, Becker Type (BMD)

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy, Becker Type

MalaCards integrated aliases for Muscular Dystrophy, Becker Type:

Name: Muscular Dystrophy, Becker Type 57 20 37
Becker Muscular Dystrophy 57 12 20 58 73 36 29 13 6 15 71
Benign Pseudohypertrophic Muscular Dystrophy 12 20 71
Bmd 57 58 73
Becker's Muscular Dystrophy 74 20
Benign Congenital Myopathy 12 71
Becker Dystrophinopathy 20 58
Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type 57
Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type 20
Dystrophy, Muscular, Becker Type 39
Muscular Dystrophy Becker 54

Characteristics:

Orphanet epidemiological data:

58
becker muscular dystrophy
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United Kingdom),1-9/100000 (Italy),1-9/100000 (Egypt),1-9/1000000 (Japan),<1/1000000 (South Africa),1-9/100000 (Ireland),1-9/100000 (Puerto rico); Age of onset: Childhood; Age of death: any age;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive

Miscellaneous:
usual age of onset in the 20s and 30s
survival to advanced age


HPO:

31
muscular dystrophy, becker type:
Onset and clinical course adult onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:9883
OMIM® 57 300376
KEGG 36 H01964
MeSH 44 D020388
SNOMED-CT 67 111501005
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C0917713
Orphanet 58 ORPHA98895
MedGen 41 C0917713
UMLS 71 C0699741 C0917713 C3490459

Summaries for Muscular Dystrophy, Becker Type

OMIM® : 57 The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life. Loss of ambulation also varies from adolescence onward, with death usually in the fourth or fifth decade. In some cases, as in Duchenne muscular dystrophy, a degree of mental impairment is present (Emery, 2002). As in DMD, about 5 to 10% of female carriers of this X-linked disorder show muscle weakness, and frequently enlarged calves--so-called manifesting heterozygotes. Such weakness is often asymmetric; it can develop in childhood or not become evident until adult life, and can be slowly progressive or remain static. Because weakness is essentially proximal, differentiation from limb-girdle muscular dystrophy is essential for genetic counseling. In both DMD and BMD, female carriers may develop dilated cardiomyopathy in the absence of apparent weakness (Grain et al., 2001). (300376) (Updated 05-Mar-2021)

MalaCards based summary : Muscular Dystrophy, Becker Type, also known as becker muscular dystrophy, is related to dystrophinopathies and cardiomyopathy, dilated, 3b, and has symptoms including weakness An important gene associated with Muscular Dystrophy, Becker Type is DMD (Dystrophin), and among its related pathways/superpathways are Allograft rejection and Dilated cardiomyopathy. The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and brain, and related phenotypes are elevated serum creatine kinase and myalgia

Disease Ontology : 12 A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has material basis in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21.

GARD : 20 Becker muscular dystrophy (BMD) is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac (heart) muscles. It primarily affects males. The age of onset and rate of progression can vary. Muscle weakness usually becomes apparent between the ages of 5 and 15. In some cases, heart involvement (cardiomyopathy) is the first sign. BMD is caused by a mutation in the DMD gene and is inherited in an X-linked recessive manner. BMD is very similar to Duchenne muscular dystrophy, except that in BMD, symptoms begin later and progress at a slower rate. There is no cure for this condition, but there is ongoing research that shows significant promise in treating the disease. Current treatment aims to relieve symptoms and improve quality of life. People with BMD may survive into their 40s or beyond.

KEGG : 36 Becker muscular dystrophy (BMD) is a X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. In Becker muscular dystrophy, the distribution of muscle wasting and weakness is closely similar to that in Duchenne muscular dystrophy [DS:H01963], but the course of the disease is more benign.

UniProtKB/Swiss-Prot : 73 Becker muscular dystrophy: A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy.

Wikipedia : 74 Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly... more...

Related Diseases for Muscular Dystrophy, Becker Type

Diseases related to Muscular Dystrophy, Becker Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 355)
# Related Disease Score Top Affiliating Genes
1 dystrophinopathies 32.2 UTRN DMD
2 cardiomyopathy, dilated, 3b 31.8 UTRN SSPN SGCB SGCA DYSF DMD
3 myositis 31.0 PIK3C2A DYSF DMD
4 malignant hyperthermia 30.8 PIK3C2A LAMA2 DYSF DMD
5 progressive muscular dystrophy 30.6 SGCA NOS1 DMD
6 dilated cardiomyopathy 30.5 VCL SGCG SGCB SGCA LAMA2 FKTN
7 respiratory failure 30.5 PIK3C2A LAMA2 FKRP DMD
8 dermatomyositis 30.4 PIK3C2A MIR221 MIR146B
9 gas gangrene 30.4 PIK3C2A DMD DAG1
10 polymyositis 30.4 PIK3C2A MIR221 MIR146B DYSF
11 myocarditis 30.4 PIK3C2A DMD DAG1
12 glycogen storage disease ii 30.3 LAMA2 FKRP DYSF DMD
13 nonaka myopathy 30.3 FKRP DYSF DMD DAG1
14 muscular dystrophy, limb-girdle, autosomal recessive 4 30.2 SGCB SGCA FKRP DYSF
15 hypertrophic cardiomyopathy 30.0 VCL SGCG SGCB SGCA PIK3C2A FKTN
16 muscular dystrophy-dystroglycanopathy , type c, 5 30.0 SGCG LAMA2 FKTN FKRP DYSF DAG1
17 muscular dystrophy, duchenne type 29.9 VCL UTRN SSPN SGCG SGCB SGCA
18 facioscapulohumeral muscular dystrophy 1 29.9 SGCG SGCA MIR221 MIR146B FKRP DYSF
19 atrial standstill 1 29.7 VCL MIR378A FKRP DMD
20 miyoshi muscular dystrophy 29.5 SGCG SGCB SGCA PIK3C2A FKRP DYSF
21 bethlem myopathy 1 29.4 SSPN SGCG SGCA LAMA2 FKTN FKRP
22 limb-girdle muscular dystrophy 29.3 SGCG SGCB SGCA LAMA2 FKTN FKRP
23 neuromuscular disease 29.0 VCL UTRN SYNC SGCG SGCB SGCA
24 muscular dystrophy 28.9 VCL UTRN SYNC SSPN SGCG SGCB
25 muscular disease 28.8 UTRN SGCG SGCB SGCA PIK3C2A MIR378A
26 autosomal recessive limb-girdle muscular dystrophy 28.7 UTRN SSPN SGCG SGCB SGCA LAMA2
27 myopathy 28.3 UTRN SYNC SGCG SGCB SGCA PIK3C2A
28 osteoporosis 11.3
29 macular dystrophy, vitelliform, 2 11.3
30 myotonia congenita, autosomal recessive 11.2
31 endomyocardial fibrosis 11.2
32 trichodentoosseous syndrome 11.1
33 bone mineral density quantitative trait locus 8 10.8
34 bone mineral density quantitative trait locus 15 10.8
35 bone resorption disease 10.5
36 spinal muscular atrophy 10.5
37 bone mineral density quantitative trait locus 3 10.5
38 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.5
39 heart disease 10.4
40 cytoplasmic body myopathy 10.4 UTRN DMD
41 localized lipodystrophy 10.4 DYSF DMD
42 fibrosis of extraocular muscles, congenital, 1 10.4
43 muscle hypertrophy 10.4
44 myotonic dystrophy 10.4
45 nr0b1-related adrenal hypoplasia congenita 10.4 GK DMD
46 interstitial myocarditis 10.3 PIK3C2A DMD
47 microcolon 10.3 VCL DMD
48 miyoshi muscular dystrophy 1 10.3 MIR221 MIR146B DYSF
49 autosomal recessive limb-girdle muscular dystrophy type 2q 10.3 SYNC SGCA
50 myopathy, myofibrillar, 3 10.3 SYNC DYSF DMD

Graphical network of the top 20 diseases related to Muscular Dystrophy, Becker Type:



Diseases related to Muscular Dystrophy, Becker Type

Symptoms & Phenotypes for Muscular Dystrophy, Becker Type

Human phenotypes related to Muscular Dystrophy, Becker Type:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
2 myalgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003326
3 abnormal urinary color 58 31 hallmark (90%) Very frequent (99-80%) HP:0012086
4 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
5 difficulty climbing stairs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003551
6 exercise intolerance 58 31 hallmark (90%) Very frequent (99-80%) HP:0003546
7 myoglobinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002913
8 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
9 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
10 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
11 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
12 falls 58 31 frequent (33%) Frequent (79-30%) HP:0002527
13 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
14 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
15 toe walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0040083
16 arrhythmia 31 HP:0011675
17 hyporeflexia 31 HP:0001265
18 abnormality of the lower limb 58 Frequent (79-30%)
19 muscular dystrophy 31 HP:0003560
20 cardiomyopathy 31 HP:0001638
21 abnormal ekg 31 HP:0003115
22 calf muscle pseudohypertrophy 31 HP:0003707

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyporeflexia

Cardiovascular Heart:
cardiomyopathy, late onset

Muscle Soft Tissue:
calf muscle pseudohypertrophy
weakness
calf and thigh cramping muscle pains

Laboratory Abnormalities:
high serum creatine kinase
abnormal electrocardiogram
abnormal dystrophin on muscle biopsy

Clinical features from OMIM®:

300376 (Updated 05-Mar-2021)

UMLS symptoms related to Muscular Dystrophy, Becker Type:


weakness

MGI Mouse Phenotypes related to Muscular Dystrophy, Becker Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 DAG1 DMD FKRP NOS1 PIK3C2A SGCA
2 growth/size/body region MP:0005378 10.07 B3GNT2 DAG1 DMD FKRP FKTN LAMA2
3 cellular MP:0005384 10.06 B3GNT2 DAG1 DMD FKRP FKTN GK
4 homeostasis/metabolism MP:0005376 9.97 DAG1 DMD DYSF FKRP FKTN LAMA2
5 immune system MP:0005387 9.7 B3GNT2 DMD DYSF FKRP FKTN LAMA2
6 muscle MP:0005369 9.47 DAG1 DMD DYSF FKRP FKTN LAMA2

Drugs & Therapeutics for Muscular Dystrophy, Becker Type

Drugs for Muscular Dystrophy, Becker Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
2
Ramipril Approved Phase 4 87333-19-5 5362129
3 Vasodilator Agents Phase 4
4 Protective Agents Phase 4
5 Adrenergic alpha-1 Receptor Antagonists Phase 4
6 Adrenergic alpha-Antagonists Phase 4
7 Adrenergic Antagonists Phase 4
8 Adrenergic beta-Antagonists Phase 4
9 Adrenergic Agents Phase 4
10 Antioxidants Phase 4
11 Neurotransmitter Agents Phase 4
12 Calcium, Dietary Phase 4
13 calcium channel blockers Phase 4
14
Calcium Nutraceutical Phase 4 7440-70-2 271
15
Enalaprilat Approved Phase 3 76420-72-9 6917719
16
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
17 Angiotensin-Converting Enzyme Inhibitors Phase 3
18 Antihypertensive Agents Phase 3
19 HIV Protease Inhibitors Phase 3
20
protease inhibitors Phase 3
21
Metformin Approved Phase 2 657-24-9 14219 4091
22
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
23 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
24
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
25
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
26
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
27
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
28
Sodium citrate Approved, Investigational Phase 2 68-04-2
29
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
30
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
31 Hypoglycemic Agents Phase 2
32 Tea Phase 1, Phase 2
33 Anti-Inflammatory Agents Phase 2
34 Hormones Phase 2
35 Methylprednisolone Acetate Phase 2
36 Hormone Antagonists Phase 2
37 glucocorticoids Phase 2
38 Antineoplastic Agents, Hormonal Phase 2
39 Phosphodiesterase Inhibitors Phase 2
40 Citrate Phase 2
41 Phosphodiesterase 5 Inhibitors Phase 2
42 Sildenafil Citrate Phase 2 171599-83-0
43
Epicatechin Investigational Phase 1 490-46-0 72276
44 Anti-Infective Agents Phase 1
45 Anti-Bacterial Agents Phase 1
46 Gentamicins Phase 1
47
Tadalafil Approved, Investigational Early Phase 1 171596-29-5 110635
48 Omega 3 Fatty Acid
49 Sunflower
50 Linoleate

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Effects of Cardioprotective Therapy, Carvedilol vs Ramipril, in Patients Affected by Duchenne and Becker Muscular Dystrophy. Clinical Significance and Prognostic Value of Cardiac Magnetic Resonance Study. Unknown status NCT00819845 Phase 4 carvedilol;ramipril
2 Functional Muscle Ischemia and PDE5A Inhibition in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
3 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Completed NCT02147639 Phase 2, Phase 3
4 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy Completed NCT02432885 Phase 3 Enalapril
5 Pilot Study to Assess the Efficacy of L-Citrulline and Metformin in Adults With Becker's Muscular Dystrophy Completed NCT02018731 Phase 2 Metformin and Metformin & L-Citrulline;L-Citrulline and Metformin & L-Citrulline
6 Does Modulation of the nNOS System in Patients With Muscular Dystrophy and Defect nNOS Signalling Affect Cardiac, Muscular or Cognitive Function? Completed NCT01350154 Phase 2 Sildenafil;Placebo
7 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2 MYO-029
8 An Open-label Pilot Study of Purified Tea-derived Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy. Completed NCT01856868 Phase 1, Phase 2 (-)-epicatechin
9 UCD0115B: An Open-label Extension Study of Purified Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy Completed NCT03236662 Phase 2 (-)-Epicatechin
10 A Phase 2B Efficacy and Safety Study of PTC124 in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy Completed NCT00592553 Phase 2 Ataluren;Placebo
11 An Open-label, Un-controlled, Single-centre Trial Investigating the Efficacy and Safety of CRD007 in Children With Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD) or Children Being Symptomatic Carriers for DMD or BMD Completed NCT01540604 Phase 2 CRD007
12 A Randomised, Double Blind, Placebo Controlled Study to Evaluate the Micro-macroscopic Effects on Muscles, the Safety and Tolerability, and the Efficacy of Givinostat in Patients With Becker Muscular Dystrophy (BMD) Active, not recruiting NCT03238235 Phase 2 givinostat;placebo
13 Open Label Safety and Efficacy of Once Weekly Steroid in Patients With LGMD and Becker Muscular Dystrophy Active, not recruiting NCT04054375 Phase 2 Prednisone
14 Phase 2 Clinical Trial of Sildenafil for Cardiac Dysfunction in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Terminated NCT01168908 Phase 2 Sildenafil
15 A Phase 2B Extension Study of PTC124 in Subjects With Nonsense-Mutation-Mediated Duchenne and Becker Muscular Dystrophy Terminated NCT00847379 Phase 2 Ataluren
16 A Phase 2a Study of Ataluren (PTC124) in Nonambulatory Patients With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy Terminated NCT01009294 Phase 2 Ataluren;Chronic Corticosteroid Therapy
17 Gentamicin Treatment of Patients With Muscular Dystrophy Due to Nonsense Mutations in Dystrophin Completed NCT00005574 Phase 1 Gentamicin
18 Phase I Clinical Intramuscular Gene Transfer of rAAV1.CMV.huFollistatin344 Trial to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis. Completed NCT01519349 Phase 1
19 Sodium Nitrate to Improve Blood Flow Completed NCT02847975 Phase 1
20 Sodium Nitrate for Muscular Dystrophy Completed NCT02434627 Phase 1 Sodium Nitrate
21 A Phase 1, Randomized, Placebo-Controlled, Double-blind, Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and PK of EDG-5506 in Adult Healthy Volunteers and Adults With Becker Muscular Dystrophy Recruiting NCT04585464 Phase 1 EDG-5506;Placebo
22 A Phase 1, Open-label, Dose Escalation Study to Evaluate the Safety and Preliminary Efficacy of Orally Administered (+)-Epicatechin in Patients With Becker or Becker-like Muscular Dystrophy With Continued Ambulation Past 16 Years of Age Active, not recruiting NCT04386304 Phase 1 (+)-Epicatechin
23 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
24 PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping Unknown status NCT01539772
25 Prospective Cohort Study of Patients With Mutations in the Dystrophin Gene (X Linked Dilated Cardiomyopathy and Becker Muscular Dystrophy) Unknown status NCT02020954
26 Muscle MRI Study of Patients With Becker Muscular Dystrophy and Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
27 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
28 Effect of Eicosapentaenoic Fatty Acid (EPA) and Docosahexaenoic Fatty Acids (DHA) Supplementation on the Inflammation State and Metabolic Disorders in Patients With Duchenne Muscular Dystrophy or Becker Muscular Dystrophy Completed NCT01826422
29 Where Does Hope Fit In? The Relationship Between Hope, Uncertainty, and Coping Efficacy in Mothers of Children With Duchenne/Becker Muscular Dystrophy Completed NCT02194725
30 The Duchenne Registry: An International, Patient-Report Registry for Individuals With Duchenne and Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Network) Recruiting NCT02069756
31 Cardiac Involvement in Patients With Duchenne/Becker Muscular Dystrophy Active, not recruiting NCT02470962
32 Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) Active, not recruiting NCT02972580
33 Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases Enrolling by invitation NCT04349566
34 Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5) Part 1: a Multicentre Online Phenotyping and Neurobehavioural Data Collection Study Not yet recruiting NCT04583917
35 Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5 and WP6) Part 2: a Neurobehavioural and MRI Study Not yet recruiting NCT04668716
36 Skeletal Muscle Blood Flow in Becker Muscular Dystrophy Terminated NCT02653833 Early Phase 1 Tadalafil 20 MG

Search NIH Clinical Center for Muscular Dystrophy, Becker Type

Genetic Tests for Muscular Dystrophy, Becker Type

Genetic tests related to Muscular Dystrophy, Becker Type:

# Genetic test Affiliating Genes
1 Becker Muscular Dystrophy 29 DMD

Anatomical Context for Muscular Dystrophy, Becker Type

MalaCards organs/tissues related to Muscular Dystrophy, Becker Type:

40
Heart, Skeletal Muscle, Brain, Bone, Retina, Skin, Liver

Publications for Muscular Dystrophy, Becker Type

Articles related to Muscular Dystrophy, Becker Type:

(show top 50) (show all 1561)
# Title Authors PMID Year
1
Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. 61 54 6
12754707 2003
2
Fatal rhabdomyolysis complicating general anaesthesia in a child with Becker muscular dystrophy. 61 57 54
1822795 1991
3
Homozygous female Becker muscular dystrophy. 57 61
19396825 2009
4
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. 6 61
19206170 2009
5
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. 57 61
16077730 2005
6
Rapid direct sequence analysis of the dystrophin gene. 6 61
12632325 2003
7
Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy. 61 57
10093987 1999
8
Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. 61 6
9410897 1997
9
A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy. 6 61
8279470 1994
10
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. 6 61
7951253 1994
11
Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin. 57 61
8282827 1994
12
Non-isotopic analysis of single strand conformation polymorphism (SSCP) in the exon 13 region of the human dystrophin gene. 6 61
8301652 1993
13
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria. 57 61
8223790 1993
14
Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation. 61 6
8322822 1993
15
Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain? 61 57
8445617 1993
16
Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophy. 61 57
1757094 1991
17
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. 57 61
2063877 1991
18
Becker muscular dystrophy: correlation of deletion type with clinical severity. 61 57
2325103 1990
19
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. 61 57
2404210 1990
20
A normal male with an inherited deletion of one exon within the DMD gene. 61 57
2404853 1990
21
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. 57 61
3384440 1988
22
Population data on benign and severe forms of X-linked muscular dystrophy. 61 57
3557448 1987
23
Linkage analysis of a DNA polymorphism proximal to the Duchenne and Becker muscular dystrophy loci on the short arm of the X chromosome. 61 57
2989525 1985
24
Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids. 61 57
2984927 1985
25
Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9). 61 57
2993155 1985
26
Genetic counseling in Becker type X-linked muscular dystrophy. II: Practical considerations. 57 61
6486170 1984
27
Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences. 57 61
6086495 1984
28
Benign X-linked muscular dystrophy (Becker type): a kindred with very slow rate of progression. 57 61
6364683 1983
29
Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. 57 61
6620324 1983
30
Prospective study of X-linked progressive muscular dystrophy in Campania. 61 57
6683357 1983
31
Bilateral patellar subluxation secondary to Becker muscular dystrophy. A case report. 61 57
7085704 1982
32
[Biochemical, histological and clinical findings in a four-year-old female carrier of benign X-linked muscular dystrophy (Becker type)]. 57 61
5576061 1971
33
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. 57
19367636 2009
34
Distinctive patterns of microRNA expression in primary muscular disorders. 61 47
17942673 2007
35
Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. 57
15528407 2004
36
Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy. 57
12522557 2003
37
The muscular dystrophies. 57
11879882 2002
38
Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. 57
11257476 2001
39
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. 6
11039581 2000
40
Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? 57
9800909 1998
41
A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin. 57
7496177 1995
42
Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy. 57
7951237 1994
43
Dilated cardiomyopathy requiring cardiac transplantation as initial manifestation of Xp21 Becker type muscular dystrophy. 57
8012195 1994
44
Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. 57
8326329 1993
45
Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts. 6
8401537 1993
46
An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. 6
1577476 1992
47
Two distinct mutations in a single dystrophin gene: chance occurrence or premutation? 6
1632439 1992
48
Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. 57
2677830 1989
49
A family of Becker's progressive muscular dystrophy with severe cardiomyopathy. 57
3622571 1987
50
Marked heart involvement in Becker's type muscular dystrophy. 57
3841927 1985

Variations for Muscular Dystrophy, Becker Type

ClinVar genetic disease variations for Muscular Dystrophy, Becker Type:

6 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DMD NM_000109.4(DMD):c.2356+3A>C SNV Pathogenic 11226 rs1569564916 X:32519869-32519869 X:32501752-32501752
2 DMD NM_000109.4(DMD):c.8524-1G>C SNV Pathogenic 11227 rs1569546198 X:31497221-31497221 X:31479104-31479104
3 DMD NM_000109.4(DMD):c.479C>A (p.Ala160Asp) SNV Pathogenic 11230 rs128626236 X:32834612-32834612 X:32816495-32816495
4 DMD NM_000109.4(DMD):c.70-1G>T SNV Pathogenic 11237 rs863225016 X:32867938-32867938 X:32849821-32849821
5 DMD NM_000109.4(DMD):c.667T>A (p.Tyr223Asn) SNV Pathogenic 11241 rs128626237 X:32717369-32717369 X:32699252-32699252
6 DMD BMD, IVS13, G-T, -1 SNV Pathogenic 11248
7 DMD NM_004017.3(DMD):c.1019+737C>T SNV Pathogenic 11276 rs104894791 X:31196049-31196049 X:31177932-31177932
8 DMD DMD, 1-BP DEL, 10683C Deletion Pathogenic 11277
9 DMD NM_000109.4(DMD):c.3607G>T (p.Glu1203Ter) SNV Pathogenic 11280 rs267606771 X:32466728-32466728 X:32448611-32448611
10 DMD NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) SNV Pathogenic 11283 rs5030730 X:32456489-32456489 X:32438372-32438372
11 DMD NM_004006.2(DMD):c.9225-285A>G SNV Pathogenic 11286 rs587776747 X:31279418-31279418 X:31261301-31261301
12 DMD NM_004006.2(DMD):c.3432+2036A>G SNV Pathogenic 455893 rs182575709 X:32479520-32479520 X:32461403-32461403
13 DMD NM_004006.2(DMD):c.3295C>T (p.Gln1099Ter) SNV Pathogenic 94584 rs398123935 X:32481693-32481693 X:32463576-32463576
14 DMD NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter) SNV Pathogenic 11213 rs104894787 X:31196901-31196901 X:31178784-31178784
15 DMD NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) Microsatellite Pathogenic 284288 rs886042840 X:31196906-31196908 X:31178789-31178791
16 DMD Deletion Pathogenic 374332 X:31838467-31867499
17 DMD Deletion Pathogenic 374372 X:31792077-31854939
18 DMD NM_004006.2(DMD):c.7310-1G>A SNV Pathogenic 492825 rs1556880354 X:31792310-31792310 X:31774193-31774193
19 DMD NM_004006.2(DMD):c.6502G>T (p.Glu2168Ter) SNV Pathogenic 225615 rs779739455 X:31986568-31986568 X:31968451-31968451
20 DMD NM_004006.2(DMD):c.2669T>A (p.Leu890Ter) SNV Pathogenic 492823 rs1557380616 X:32503170-32503170 X:32485053-32485053
21 DMD NM_000109.4(DMD):c.5300_5301delinsGT (p.Lys1767Ser) Indel Pathogenic 492824 rs1557303381 X:32380905-32380906 X:32362788-32362789
22 DMD NM_000109.4(DMD):c.9830_9839del (p.Met3277fs) Deletion Pathogenic 94863 rs398124105 X:31200966-31200975 X:31182849-31182858
23 DMD NM_000109.4(DMD):c.606del (p.Lys203fs) Deletion Pathogenic 492822 rs1557047827 X:32827629-32827629 X:32809512-32809512
24 DMD NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) Duplication Pathogenic 497301 rs886043375 X:31187659-31187660 X:31169542-31169543
25 DMD NM_004006.2(DMD):c.8713C>T (p.Arg2905Ter) SNV Pathogenic 11288 rs128627256 X:31496447-31496447 X:31478330-31478330
26 DMD Deletion Pathogenic 560054 X:31697480-31766673 X:31679364-31748557
27 DMD Duplication Pathogenic 560062 X:31947471-31972601
28 DMD NM_004006.2(DMD):c.1292G>A (p.Trp431Ter) SNV Pathogenic 526062 rs1556875224 X:32662288-32662288 X:32644171-32644171
29 DMD NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) SNV Pathogenic 374132 rs201217593 X:31196064-31196064 X:31177947-31177947
30 DMD NM_004006.2(DMD):c.10171C>T (p.Arg3391Ter) SNV Pathogenic 94428 rs398123832 X:31196838-31196838 X:31178721-31178721
31 DMD NM_004006.2(DMD):c.3151C>T (p.Arg1051Ter) SNV Pathogenic 94576 rs398123929 X:32486626-32486626 X:32468509-32468509
32 DMD GRCh37/hg19 Xp21.1(chrX:31853996-31855256) copy number loss Pathogenic 625643 X:31853996-31855256
33 DMD NM_004006.2(DMD):c.1093C>T (p.Gln365Ter) SNV Pathogenic 193663 rs794726993 X:32663137-32663137 X:32645020-32645020
34 DMD GRCh37/hg19 Xp21.1(chrX:31792077-31893490) copy number loss Pathogenic 813307 X:31792077-31893490
35 DMD NM_004006.2(DMD):c.9G>A (p.Trp3Ter) SNV Pathogenic 29962 rs398122853 X:33229421-33229421 X:33211304-33211304
36 DMD NM_004006.3(DMD):c.1812+1G>A SNV Pathogenic 162497 rs373286166 X:32591646-32591646 X:32573529-32573529
37 DMD NM_004006.2(DMD):c.2804-1G>T SNV Likely pathogenic 455886 rs398123909 X:32490427-32490427 X:32472310-32472310
38 DMD NM_004006.3(DMD):c.6124A>T (p.Lys2042Ter) SNV Likely pathogenic 983654 X:32305812-32305812 X:32287695-32287695
39 DMD NM_004006.3(DMD):c.5860A>T (p.Lys1954Ter) SNV Likely pathogenic 983655 X:32360279-32360279 X:32342162-32342162
40 DMD NM_004006.3(DMD):c.5794C>T (p.Gln1932Ter) SNV Likely pathogenic 983656 X:32360345-32360345 X:32342228-32342228
41 DMD NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter) SNV Likely pathogenic 803859 rs1603631244 X:32361354-32361354 X:32343237-32343237
42 DMD NM_004006.3(DMD):c.5383G>T (p.Glu1795Ter) SNV Likely pathogenic 983657 X:32366588-32366588 X:32348471-32348471
43 DMD NM_004006.3(DMD):c.5114C>G (p.Ser1705Ter) SNV Likely pathogenic 983658 X:32382739-32382739 X:32364622-32364622
44 DMD NM_004006.3(DMD):c.5026G>T (p.Glu1676Ter) SNV Likely pathogenic 983659 X:32382827-32382827 X:32364710-32364710
45 DMD NM_004006.3(DMD):c.5012T>A (p.Leu1671Ter) SNV Likely pathogenic 983660 X:32383150-32383150 X:32365033-32365033
46 DMD NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter) SNV Likely pathogenic 803866 rs1603631752 X:32383182-32383182 X:32365065-32365065
47 DMD NM_004006.3(DMD):c.4979G>A (p.Trp1660Ter) SNV Likely pathogenic 983942 X:32383183-32383183 X:32365066-32365066
48 DMD NM_004006.3(DMD):c.4656T>A (p.Tyr1552Ter) SNV Likely pathogenic 983943 X:32404445-32404445 X:32386328-32386328
49 DMD NM_004006.3(DMD):c.4649T>A (p.Leu1550Ter) SNV Likely pathogenic 983944 X:32404452-32404452 X:32386335-32386335
50 DMD NM_004006.3(DMD):c.4454T>A (p.Leu1485Ter) SNV Likely pathogenic 983945 X:32407682-32407682 X:32389565-32389565

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Becker Type:

73
# Symbol AA change Variation ID SNP ID
1 DMD p.Ala168Asp VAR_005149
2 DMD p.Tyr231Asn VAR_005150
3 DMD p.His2921Arg VAR_005170 rs1800279
4 DMD p.Ala3421Val VAR_005172
5 DMD p.Ala171Pro VAR_023539

Expression for Muscular Dystrophy, Becker Type

LifeMap Discovery
Genes differentially expressed in tissues of Muscular Dystrophy, Becker Type patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MYH3 myosin heavy chain 3 Skeletal Muscle + 4.14 0.000
Search GEO for disease gene expression data for Muscular Dystrophy, Becker Type.

Pathways for Muscular Dystrophy, Becker Type

GO Terms for Muscular Dystrophy, Becker Type

Cellular components related to Muscular Dystrophy, Becker Type according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.4 VCL UTRN SSPN SGCG SGCB SGCA
2 plasma membrane GO:0005886 10.34 VCL UTRN SSPN SGCG SGCB SGCA
3 cell junction GO:0030054 10.01 VCL UTRN SSPN NOS1 DMD DAG1
4 cytoskeleton GO:0005856 10.01 VCL UTRN SGCG SGCB SGCA NOS1
5 membrane raft GO:0045121 9.77 VCL SGCA NOS1 DMD DAG1
6 postsynaptic membrane GO:0045211 9.76 UTRN SSPN DMD DAG1
7 filopodium GO:0030175 9.7 UTRN DMD DAG1
8 neuromuscular junction GO:0031594 9.69 UTRN SYNC LAMA2
9 filopodium membrane GO:0031527 9.55 UTRN DMD
10 costamere GO:0043034 9.5 VCL DMD DAG1
11 cell-substrate junction GO:0030055 9.48 VCL DMD
12 sarcolemma GO:0042383 9.44 VCL UTRN SYNC SSPN SGCG SGCB
13 contractile ring GO:0070938 9.43 UTRN DAG1
14 sarcoglycan complex GO:0016012 9.43 SGCG SGCB SGCA
15 dystrophin-associated glycoprotein complex GO:0016010 9.43 UTRN SSPN SGCB SGCA DMD DAG1
16 dystroglycan complex GO:0016011 9.33 SGCB SGCA DAG1

Biological processes related to Muscular Dystrophy, Becker Type according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.63 VCL UTRN SSPN SGCA NOS1 DYSF
2 maintenance of permeability of blood-brain barrier GO:0035633 9.54 VCL LAMA2 DMD
3 positive regulation of cell-matrix adhesion GO:0001954 9.5 UTRN DMD DAG1
4 morphogenesis of an epithelium GO:0002009 9.49 VCL DAG1
5 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.48 NOS1 DMD
6 protein O-linked mannosylation GO:0035269 9.46 FKTN FKRP
7 muscle fiber development GO:0048747 9.43 SGCB DMD
8 skeletal muscle tissue regeneration GO:0043403 9.43 SGCA DMD DAG1
9 Schwann cell differentiation GO:0014037 9.4 LAMA2 DAG1
10 response to denervation involved in regulation of muscle adaptation GO:0014894 9.26 UTRN SGCA DMD DAG1
11 muscle organ development GO:0007517 9.17 UTRN SGCG SGCB SGCA LAMA2 FKTN

Molecular functions related to Muscular Dystrophy, Becker Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vinculin binding GO:0017166 9.13 UTRN DMD DAG1
2 dystroglycan binding GO:0002162 8.92 VCL FKRP DMD DAG1

Sources for Muscular Dystrophy, Becker Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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