BMD
MCID: BCK001
MIFTS: 69

Becker Muscular Dystrophy (BMD) malady

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

Aliases & Classifications for Becker Muscular Dystrophy

Aliases & Descriptions for Becker Muscular Dystrophy:

Name: Becker Muscular Dystrophy 54 38 12 50 24 56 66 13 14 69
Benign Pseudohypertrophic Muscular Dystrophy 12 50 69
Bmd 24 56 66
Muscular Dystrophy, Becker Type 50 29
Benign Congenital Myopathy 12 69
Becker Dystrophinopathy 50 56
Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type 50
Becker's Muscular Dystrophy 50
Muscular Dystrophy Becker 52

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
becker muscular dystrophy:
Onset and clinical course adult onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 300376
Disease Ontology 12 DOID:9883
SNOMED-CT 64 111501005 193222002
Orphanet 56 ORPHA98895
MESH via Orphanet 43 C537666
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 70 C0917713
MedGen 40 C0917713
MeSH 42 D020388
UMLS 69 C0699741

Summaries for Becker Muscular Dystrophy

OMIM : 54 The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of... (300376) more...

MalaCards based summary : Becker Muscular Dystrophy, also known as benign pseudohypertrophic muscular dystrophy, is related to duchenne muscular dystrophy and muscular dystrophy, duchenne and becker type, and has symptoms including fatigue, myalgia and muscle weakness. An important gene associated with Becker Muscular Dystrophy is DMD (Dystrophin), and among its related pathways/superpathways are Cardiac conduction and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are homeostasis/metabolism and immune system

NIH Rare Diseases : 50 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. last updated: 9/3/2016

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Becker Muscular Dystrophy

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

(show top 50) (show all 101)
id Related Disease Score Top Affiliating Genes
1 duchenne muscular dystrophy 32.4 DMD GK
2 muscular dystrophy, duchenne and becker type 11.3
3 muscular dystrophy 11.2
4 bethlem myopathy 1 11.1
5 myotonia congenita, recessive 11.0
6 endomyocardial fibrosis 11.0
7 cardiomyopathy 10.5
8 myopathy 10.3
9 dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis 10.3 DMD UTRN
10 dilated cardiomyopathy 10.2
11 parkinsonism with spasticity, x-linked 10.2 DMD GK
12 spinal muscular atrophy 10.2
13 muscular atrophy 10.2
14 cardiomyopathy, dilated, 3b 10.2 DMD GK
15 lumbar malsegmentation short stature 10.2 DMD DYSF
16 epimerase deficiency galactosemia 10.2 DMD UTRN
17 cone-rod dystrophy, prph2-related 10.2 DMD FKRP
18 eif2b1-related childhood ataxia with central nervous system hypomyelination/vanishing white matter 10.1 DMD SGCA
19 rippling muscle disease 10.1 DYSF FKRP
20 congenital heart defects, multiple types, 3 10.1 DYSF FKRP
21 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.1 DYSF FKRP
22 deafness, autosomal recessive 18b 10.1 DYSF FKRP
23 autosomal dominant limb-girdle muscular dystrophy type 1c 10.1 DYSF FKRP
24 hiatus hernia 10.1 DMD NOS1
25 vestibulocochlear nerve disease 10.1 DMD NOS1
26 myotonic dystrophy 10.1
27 epilepsy 10.1
28 limb-girdle muscular dystrophy 10.1
29 myositis 10.1
30 malignant hyperthermia 10.1
31 muscle hypertrophy 10.1
32 neurodegeneration with brain iron accumulation 6 10.1 DYSF FKRP
33 ceroid lipofuscinosis, neuronal, 2 10.1 DMD DYSF
34 lyme disease 10.1 DMD DYSF
35 autosomal recessive nonsyndromic deafness 47 10.1 DMD LAMA2
36 cardiomyopathy, familial restrictive, 3 10.0 DMD LAMA2
37 lipodystrophy, familial partial, 2 10.0 DMD LAMA2
38 klinefelter's syndrome 10.0
39 ischemia 10.0
40 myotonia 10.0
41 cardiomyopathy, dilated, 1x 10.0 DMD LAMA2
42 inflammatory bowel disease 14 10.0 DMD DYSF
43 gabrg2-related generalized epilepsy with febrile seizures plus 10.0 FKRP LAMA2
44 cubitus valgus with mental retardation and unusual facies 10.0 DMD LAMA2
45 leukemia, megakaryoblastic, with or without down syndrome, somatic 10.0 DMD GK
46 pancreatic agenesis 1 10.0 DMD DYSF SGCA
47 phototoxic dermatitis 9.9 DMD LAMA2 UTRN
48 cardiomyopathy, dilated, 1aa, with or without lvnc 9.9 DMD FKRP LAMA2
49 dermatofibrosarcoma protuberans 9.9 DMD FKRP LAMA2
50 glycogen storage disease 0, muscle 9.9 DMD FKRP LAMA2

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



Diseases related to Becker Muscular Dystrophy

Symptoms & Phenotypes for Becker Muscular Dystrophy

Symptoms by clinical synopsis from OMIM:

300376

Clinical features from OMIM:

300376

Human phenotypes related to Becker Muscular Dystrophy:

56 32 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Frequent (79-30%) HP:0012378
2 myalgia 56 32 Very frequent (99-80%) HP:0003326
3 muscle weakness 56 32 Frequent (79-30%) HP:0001324
4 pes planus 56 32 Occasional (29-5%) HP:0001763
5 elevated serum creatine phosphokinase 56 32 Very frequent (99-80%) HP:0003236
6 skeletal muscle atrophy 56 32 Occasional (29-5%) HP:0003202
7 elevated hepatic transaminases 56 32 Frequent (79-30%) HP:0002910
8 falls 56 32 Frequent (79-30%) HP:0002527
9 muscle cramps 56 32 Frequent (79-30%) HP:0003394
10 difficulty walking 56 32 Very frequent (99-80%) HP:0002355
11 exercise intolerance 56 32 Very frequent (99-80%) HP:0003546
12 abnormal urinary color 56 32 Very frequent (99-80%) HP:0012086
13 difficulty climbing stairs 56 32 Very frequent (99-80%) HP:0003551
14 myoglobinuria 56 32 Very frequent (99-80%) HP:0002913
15 toe walking 56 32 Occasional (29-5%) HP:0040083
16 arrhythmia 32 HP:0011675
17 cardiomyopathy 32 HP:0001638
18 hyporeflexia 32 HP:0001265
19 muscular dystrophy 32 HP:0003560
20 abnormality of the lower limb 56 Frequent (79-30%)
21 calf muscle pseudohypertrophy 32 HP:0003707

UMLS symptoms related to Becker Muscular Dystrophy:


weakness

MGI Mouse Phenotypes related to Becker Muscular Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.86 DMD DYSF FKRP LAMA2 MYF6 NOS1
2 immune system MP:0005387 9.7 DMD DYSF FKRP LAMA2 NOS1 SGCA
3 muscle MP:0005369 9.61 DMD DYSF FKRP LAMA2 MYF6 NOS1
4 skeleton MP:0005390 9.1 DMD FKRP LAMA2 MYF6 NOS1 UTRN

Drugs & Therapeutics for Becker Muscular Dystrophy

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

(show top 50) (show all 202)
id 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
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Early Phase 1 171596-29-5 110635
4 Adrenergic Agents Phase 4,Phase 3
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 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
10 Antihypertensive Agents Phase 4,Phase 3,Phase 2
11 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
12 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
13
protease inhibitors Phase 4,Phase 3,Phase 2
14 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
18 Antibiotics, Antitubercular Phase 4
19
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
20
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
21
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
22
Enalaprilat Approved Phase 3 76420-72-9 6917719
23
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
24 Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
25 Deflazacort Approved Phase 3,Phase 1 14484-47-0
26
Eplerenone Approved Phase 3 107724-20-9 150310 443872
27
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
28
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7 5362119
29
Zoledronic acid Approved Phase 3 118072-93-8 68740
30
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
31 tannic acid Approved, Nutraceutical Phase 3
32
Creatine Approved, Nutraceutical Phase 2, Phase 3 57-00-1 586
33 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1
34 Bone Density Conservation Agents Phase 3,Phase 1
35 diuretics Phase 3,Phase 1
36 Natriuretic Agents Phase 3,Phase 1
37 Antineoplastic Agents, Hormonal Phase 3,Phase 2,Phase 1
38 glucocorticoids Phase 3,Phase 2,Phase 1
39 Hormone Antagonists Phase 3,Phase 2,Phase 1
40 Hormones Phase 3,Phase 2,Phase 1
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
42 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
43 Antioxidants Phase 3,Phase 2,Phase 1
44 Micronutrients Phase 3,Phase 2
45 Protective Agents Phase 3,Phase 2,Phase 1
46 Trace Elements Phase 3,Phase 2
47 Ubiquinone Phase 3,Phase 2
48 Pharmaceutical Solutions Phase 2, Phase 3, Phase 1
49 Immunosuppressive Agents Phase 3,Phase 1
50 Diuretics, Potassium Sparing Phase 3

Interventional clinical trials:

(show top 50) (show all 206)
id Name Status NCT ID Phase
1 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4
2 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4
3 Tadalafil in Becker Muscular Dystrophy Completed NCT01070511 Phase 4
4 PDE5 Inhibition to Alleviate Functional Muscle Ischemia in Becker Muscular Dystrophy Completed NCT02207283 Phase 4
5 Stacking Exercises Aid the Decline in FVC and Sick Time Active, not recruiting NCT01999075 Phase 4
6 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
7 Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Completed NCT00592553 Phase 2, Phase 3
8 High-dose Prednisone in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3
9 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3
10 L-citrulline and Metformin in Duchenne's Muscular Dystrophy Completed NCT01995032 Phase 3
11 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3
12 A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Completed NCT01254019 Phase 3
13 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3
14 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3
15 A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD) Completed NCT00018109 Phase 3
16 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3
17 Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of BMS-986089 in Ambulatory Boys With Duchenne Muscular Dystrophy Recruiting NCT03039686 Phase 2, Phase 3
18 A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid Steroids Recruiting NCT02814019 Phase 3
19 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3
20 1 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids Recruiting NCT01197300 Phase 3
21 A Research Study of Zoledronic Acid in Children and Adolescents With Osteoporosis Recruiting NCT00799266 Phase 3
22 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3
23 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3
24 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Active, not recruiting NCT01183767 Phase 2, Phase 3
25 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3
26 Confirmatory Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3
27 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3
28 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3
29 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3
30 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3
31 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Not yet recruiting NCT02851797 Phase 3
32 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Not yet recruiting NCT03179631 Phase 3
33 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3
34 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3
35 Extension Study of Drisapersen in DMD Subjects Terminated NCT02636686 Phase 3
36 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3
37 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3
38 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3
39 Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders Terminated NCT00839033 Phase 3
40 Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol Withdrawn NCT01890798 Phase 3
41 Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy Unknown status NCT02285673 Phase 1, Phase 2
42 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
43 Safety and Efficacy Study of IGF-1 in Duchenne Muscular Dystrophy Unknown status NCT01207908 Phase 1, Phase 2
44 Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy Unknown status NCT01834040 Phase 1, Phase 2
45 Study Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Muscular Dystrophy. Unknown status NCT01834066 Phase 1, Phase 2
46 L-citrulline and Metformin in Becker's Muscular Dystrophy Completed NCT02018731 Phase 2
47 CRD007 for the Treatment of Duchenne Muscular Dystrophy, Becker Muscular Dystrophy and Symptomatic Carriers Completed NCT01540604 Phase 2
48 Effect of Modulating the nNOS System on Cardiac, Muscular and Cognitive Function in Becker Muscular Dystrophy Patients Completed NCT01350154 Phase 2
49 Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy Completed NCT00264888 Phase 2
50 Safety and Efficacy Study of Antisense Oligonucleotides in Duchenne Muscular Dystrophy Completed NCT00159250 Phase 1, Phase 2

Search NIH Clinical Center for Becker Muscular Dystrophy

Genetic Tests for Becker Muscular Dystrophy

Genetic tests related to Becker Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Becker Muscular Dystrophy 29 24

Anatomical Context for Becker Muscular Dystrophy

MalaCards organs/tissues related to Becker Muscular Dystrophy:

39
Heart, Skeletal Muscle, Testes, Brain, Bone, Liver, Colon

Publications for Becker Muscular Dystrophy

Articles related to Becker Muscular Dystrophy:

(show top 50) (show all 532)
id Title Authors Year
1
A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene. ( 28247318 )
2017
2
A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy. ( 28288529 )
2017
3
Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged a8o3 Years: A Retrospective Study. ( 28533764 )
2017
4
Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy. ( 28316128 )
2017
5
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. ( 28079318 )
2017
6
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
7
Myocardial Fibrosis in Duchenne and Becker Muscular Dystrophy. ( 28492916 )
2017
8
Repair of an inguinoscrotal hernia in a patient with Becker muscular dystrophy. ( 28098058 )
2017
9
Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy. ( 28393671 )
2017
10
Cardiac involvement in female carriers of Duchenne or Becker muscular dystrophy. ( 28393376 )
2017
11
Myocardial Fibrosis in Duchenne and Becker Muscular Dystrophy-Reply. ( 28492933 )
2017
12
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. ( 26911353 )
2016
13
Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial. ( 27926769 )
2016
14
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript. ( 27616544 )
2016
15
A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability. ( 26836830 )
2016
16
Dystrophin Hot-Spot Mutants Leading to Becker Muscular Dystrophy Insert More Deeply into Membrane Models than the Native Protein. ( 27367833 )
2016
17
Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I. ( 27463532 )
2016
18
Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies. ( 26974331 )
2016
19
Effects of Sildenafil on Cerebrovascular Reactivity in Patients with Becker Muscular Dystrophy. ( 27485237 )
2016
20
Errata: Therapeutic Strategy for Heart Failure in Becker Muscular Dystrophy. ( 27916789 )
2016
21
Left ventricular hypertrophy: A rare cardiac involvement of Becker muscular dystrophy. ( 27742039 )
2016
22
Extensive Functional Evaluations to Monitor Aerobic Training in Becker Muscular Dystrophy: A Case Report. ( 27478558 )
2016
23
Therapeutic Strategy for Heart Failure in Becker Muscular Dystrophy. ( 27593540 )
2016
24
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. ( 27582364 )
2016
25
Rehabilitative technology use among individuals with Duchenne/Becker muscular dystrophy. ( 26966800 )
2016
26
Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico. ( 27854217 )
2016
27
The 6-minute walk test, motor function measure and quantitative thigh muscle MRI in Becker muscular dystrophy: A cross-sectional study. ( 27209345 )
2016
28
Cardiomyopathy in becker muscular dystrophy: Overview. ( 27354892 )
2016
29
A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene. ( 27955624 )
2016
30
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. ( 27593222 )
2016
31
Cardiac involvement in female carriers of Duchenne or Becker muscular dystrophy. ( 27761893 )
2016
32
A Case of Refractory Heart Failure in Becker Muscular Dystrophy Improved With Corticosteroid Therapy. ( 27535714 )
2016
33
Guidelines for the Perianesthesia Care of the Duchenne Muscular Dystrophy/Becker Muscular Dystrophy Patient. ( 27931703 )
2016
34
Age at onset of first signs or symptoms predicts age at loss of ambulation in Duchenne and Becker Muscular Dystrophy: Data from the MD STARnet. ( 26966795 )
2016
35
Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants. ( 27350676 )
2016
36
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. ( 26718981 )
2016
37
Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy. ( 27863875 )
2016
38
Obesity and Premature Loss of Mobility in Two Adolescents with Becker Muscular Dystrophy Following HeartMate II Implantation. ( 26461240 )
2015
39
Life-threatening Arrhythmias in a Becker Muscular Dystrophy Family due to the Duplication of Exons 3-4 of the Dystrophin Gene. ( 26631896 )
2015
40
Mothers' psychological adaptation to Duchenne/Becker muscular dystrophy. ( 26306645 )
2015
41
Dystrophin genotype-cardiac phenotype correlations in Duchenne and Becker muscular dystrophies using cardiac magnetic resonance imaging. ( 25702278 )
2015
42
Leptin and metabolic syndrome in patients with Duchenne/Becker muscular dystrophy. ( 26133644 )
2015
43
Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies. ( 26042512 )
2015
44
Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies. ( 26295289 )
2015
45
TNF-I+-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy. ( 26321630 )
2015
46
Pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy. ( 25978940 )
2015
47
Health services received by individuals with Duchenne/Becker muscular dystrophy. ( 26044770 )
2015
48
Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity. ( 25633150 )
2015
49
Late-onset Becker muscular dystrophy: Refining the clinical features and electrophysiological findings. ( 26179421 )
2015
50
Response to: Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity. ( 26004424 )
2015

Variations for Becker Muscular Dystrophy

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

66
id 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

ClinVar genetic disease variations for Becker Muscular Dystrophy:

6 (show top 50) (show all 182)
id Gene Variation Type Significance SNP ID Assembly Location
1 DMD NM_004006.2(DMD): c.8944C> T (p.Arg2982Ter) single nucleotide variant Pathogenic rs128625229 GRCh37 Chromosome X, 31462738: 31462738
2 DMD NM_004006.2(DMD): c.10108C> T (p.Arg3370Ter) single nucleotide variant Pathogenic rs104894787 GRCh37 Chromosome X, 31196901: 31196901
3 DMD NM_004006.2(DMD): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs128626235 GRCh37 Chromosome X, 32834682: 32834682
4 DMD DMD, IVS19, A-C, +3 single nucleotide variant Pathogenic
5 DMD DMD, IVS57, G-C, -1 single nucleotide variant Pathogenic
6 DMD NM_004006.2(DMD): c.503C> A (p.Ala168Asp) single nucleotide variant Pathogenic rs128626236 GRCh37 Chromosome X, 32834612: 32834612
7 DMD DMD, IVS2, G-T, -1 single nucleotide variant Pathogenic
8 DMD NM_004006.2(DMD): c.691T> A (p.Tyr231Asn) single nucleotide variant Pathogenic rs128626237 GRCh37 Chromosome X, 32717369: 32717369
9 DMD BMD, IVS13, G-T, -1 single nucleotide variant Pathogenic
10 DMD NM_004006.2(DMD): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic rs128626249 GRCh37 Chromosome X, 32360240: 32360240
11 DMD NM_004006.2(DMD): c.6373C> T (p.Gln2125Ter) single nucleotide variant Pathogenic rs128626251 GRCh37 Chromosome X, 32235098: 32235098
12 DMD DMD, 1-BP DEL, 10683C deletion Pathogenic
13 DMD NM_004006.2(DMD): c.3631G> T (p.Glu1211Ter) single nucleotide variant Pathogenic rs267606771 GRCh37 Chromosome X, 32466728: 32466728
14 DMD NM_004006.2(DMD): c.9568C> T (p.Arg3190Ter) single nucleotide variant Pathogenic rs104894797 GRCh37 Chromosome X, 31224780: 31224780
15 DMD NM_004006.2(DMD): c.3940C> T (p.Arg1314Ter) single nucleotide variant Pathogenic rs5030730 GRCh37 Chromosome X, 32456489: 32456489
16 DMD NM_004006.2(DMD): c.9225-285A> G single nucleotide variant Pathogenic rs587776747 GRCh37 Chromosome X, 31279418: 31279418
17 DMD DMD, IVS25, A-G, +2036 single nucleotide variant Pathogenic
18 DMD NM_004006.2(DMD): c.8713C> T (p.Arg2905Ter) single nucleotide variant Pathogenic rs128627256 GRCh37 Chromosome X, 31496447: 31496447
19 DMD NM_004006.2(DMD): c.9G> A (p.Trp3Ter) single nucleotide variant Pathogenic rs398122853 GRCh37 Chromosome X, 33229421: 33229421
20 DMD NM_004006.2(DMD): c.10033C> T (p.Arg3345Ter) single nucleotide variant Pathogenic rs398123827 GRCh37 Chromosome X, 31198540: 31198540
21 DMD NM_004006.2(DMD): c.10086+1G> A single nucleotide variant Pathogenic rs398123828 GRCh37 Chromosome X, 31198486: 31198486
22 DMD NM_004006.2(DMD): c.1012G> T (p.Glu338Ter) single nucleotide variant Pathogenic rs398123830 GRCh37 Chromosome X, 32663218: 32663218
23 DMD NM_004006.2(DMD): c.10171C> T (p.Arg3391Ter) single nucleotide variant Pathogenic rs398123832 GRCh37 Chromosome X, 31196838: 31196838
24 DMD NM_004019.2(DMD): c.1020G> A (p.Thr340=) single nucleotide variant Pathogenic rs398123834 GRCh37 Chromosome X, 31196785: 31196785
25 DMD NM_004006.2(DMD): c.10258dupT (p.Ser3420Phefs) duplication Pathogenic rs398123835 GRCh37 Chromosome X, 31196053: 31196053
26 DMD NM_004006.2(DMD): c.10446_10447delCT (p.Ser3483Profs) deletion Pathogenic rs398123837 GRCh37 Chromosome X, 31187666: 31187667
27 DMD NM_004006.2(DMD): c.10454delT (p.Leu3485Argfs) deletion Pathogenic rs398123839 GRCh37 Chromosome X, 31187659: 31187659
28 DMD NM_004006.2(DMD): c.1048G> T (p.Glu350Ter) single nucleotide variant Pathogenic rs398123840 GRCh37 Chromosome X, 32663182: 32663182
29 DMD NM_004006.2(DMD): c.10625delC (p.Pro3542Leufs) deletion Pathogenic rs398123844 GRCh37 Chromosome X, 31165564: 31165564
30 DMD NM_004006.2(DMD): c.1261C> T (p.Gln421Ter) single nucleotide variant Pathogenic rs398123852 GRCh37 Chromosome X, 32662319: 32662319
31 DMD NM_004006.2(DMD): c.1306dupG (p.Val436Glyfs) duplication Pathogenic rs398123854 GRCh37 Chromosome X, 32662274: 32662274
32 DMD NM_004006.2(DMD): c.1332-9A> G single nucleotide variant Pathogenic rs72468700 GRCh37 Chromosome X, 32632579: 32632579
33 DMD NM_004006.2(DMD): c.1341_1342dupAG (p.Val448Glufs) duplication Pathogenic rs398123856 GRCh37 Chromosome X, 32632560: 32632561
34 DMD NM_004006.2(DMD): c.1371delG (p.Glu459Serfs) deletion Pathogenic rs398123857 GRCh37 Chromosome X, 32632531: 32632531
35 DMD NM_004006.2(DMD): c.137_138dupAT (p.Gly47Metfs) duplication Pathogenic rs398123859 GRCh37 Chromosome X, 32867893: 32867894
36 DMD NM_004006.2(DMD): c.1465C> T (p.Gln489Ter) single nucleotide variant Pathogenic rs398123861 GRCh37 Chromosome X, 32632437: 32632437
37 DMD NM_004006.2(DMD): c.1482+1G> T single nucleotide variant Pathogenic rs398123862 GRCh37 Chromosome X, 32632419: 32632419
38 DMD NM_004006.2(DMD): c.1529_1530delTC (p.Leu510Hisfs) deletion Pathogenic rs398123863 GRCh37 Chromosome X, 32613946: 32613947
39 DMD NM_004006.2(DMD): c.1615C> T (p.Arg539Ter) single nucleotide variant Pathogenic rs398123865 GRCh37 Chromosome X, 32591951: 32591951
40 DMD NM_004006.2(DMD): c.1886C> A (p.Ser629Ter) single nucleotide variant Pathogenic rs398123867 GRCh37 Chromosome X, 32583925: 32583925
41 DMD NM_004006.2(DMD): c.1990C> T (p.Gln664Ter) single nucleotide variant Pathogenic rs398123870 GRCh37 Chromosome X, 32583821: 32583821
42 DMD NM_004006.2(DMD): c.2032C> T (p.Gln678Ter) single nucleotide variant Pathogenic rs398123872 GRCh37 Chromosome X, 32563412: 32563412
43 DMD NM_004006.2(DMD): c.2125delC (p.Gln709Lysfs) deletion Pathogenic rs398123875 GRCh37 Chromosome X, 32563319: 32563319
44 DMD NM_004006.2(DMD): c.2294_2297delCCAT (p.Ala765Glufs) deletion Pathogenic rs398123882 GRCh37 Chromosome X, 32519955: 32519958
45 DMD NM_004006.2(DMD): c.2332C> T (p.Gln778Ter) single nucleotide variant Pathogenic rs398123883 GRCh37 Chromosome X, 32519920: 32519920
46 DMD NM_004006.2(DMD): c.2380+1G> C single nucleotide variant Pathogenic rs398123884 GRCh37 Chromosome X, 32519871: 32519871
47 DMD NM_004006.2(DMD): c.2381-1G> T single nucleotide variant Pathogenic rs398123887 GRCh37 Chromosome X, 32509636: 32509636
48 DMD NM_004006.2(DMD): c.2419C> T (p.Gln807Ter) single nucleotide variant Pathogenic rs398123888 GRCh37 Chromosome X, 32509597: 32509597
49 DMD NM_004006.2(DMD): c.2547delT (p.Glu850Lysfs) deletion Pathogenic rs398123895 GRCh37 Chromosome X, 32509469: 32509469
50 DMD NM_004006.2(DMD): c.2650C> T (p.Gln884Ter) single nucleotide variant Pathogenic rs398123903 GRCh37 Chromosome X, 32503189: 32503189

Expression for Becker Muscular Dystrophy

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

Pathways for Becker Muscular Dystrophy

GO Terms for Becker Muscular Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 DMD NOS1 SGCA UTRN VCL
2 protein complex GO:0043234 9.67 DMD NOS1 UTRN VCL
3 membrane raft GO:0045121 9.61 DMD NOS1 SGCA
4 T-tubule GO:0030315 9.46 DYSF NOS1
5 costamere GO:0043034 9.32 DMD VCL
6 filopodium membrane GO:0031527 9.26 DMD UTRN
7 dystrophin-associated glycoprotein complex GO:0016010 9.26 DMD FKRP SGCA UTRN
8 sarcolemma GO:0042383 9.17 DMD DYSF FKRP LAMA2 NOS1 SGCA
9 cell-substrate junction GO:0030055 9.16 DMD VCL

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

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.46 DYSF SGCA UTRN VCL
2 skeletal muscle tissue regeneration GO:0043403 9.43 DMD MYF6 SGCA
3 skeletal muscle tissue development GO:0007519 9.37 DMD MYF6
4 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.32 DMD NOS1
5 response to denervation involved in regulation of muscle adaptation GO:0014894 9.13 DMD SGCA UTRN
6 muscle organ development GO:0007517 9.02 DMD LAMA2 MYF6 SGCA UTRN

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

id Name GO ID Score Top Affiliating Genes
1 vinculin binding GO:0017166 8.96 DMD UTRN
2 dystroglycan binding GO:0002162 8.62 DMD VCL

Sources for Becker Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....