MCID: BCK001
MIFTS: 71

Becker Muscular Dystrophy

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

Aliases & Classifications for Becker Muscular Dystrophy

MalaCards integrated aliases for Becker Muscular Dystrophy:

Name: Becker Muscular Dystrophy 54 38 12 50 24 56 71 29 13 14 69
Benign Pseudohypertrophic Muscular Dystrophy 12 50 69
Bmd 24 56 71
Benign Congenital Myopathy 12 69
Becker Dystrophinopathy 50 56
Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type 50
Muscular Dystrophy, 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;

OMIM:

54
Inheritance:
x-linked recessive

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


HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


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 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)

MalaCards based summary : Becker Muscular Dystrophy, also known as benign pseudohypertrophic muscular dystrophy, is related to glycerol kinase deficiency and duchenne muscular dystrophy, and has symptoms including difficulty climbing stairs, fatigue 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 behavior/neurological and homeostasis/metabolism

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 : 71 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 100)
id Related Disease Score Top Affiliating Genes
1 glycerol kinase deficiency 30.5 DMD GK
2 duchenne muscular dystrophy 11.4
3 muscular dystrophy 11.2
4 muscular dystrophy, duchenne and becker type 11.2
5 bethlem myopathy 1 11.1
6 d-minus hemolytic uremic syndrome 10.6 DMD UTRN
7 parkinsonism with spasticity, x-linked 10.6 DMD GK
8 epb42-related hereditary spherocytosis 10.5 DMD UTRN
9 multiple endocrine neoplasia 10.5 DMD FKRP
10 cardiomyopathy 10.5
11 cardiomyopathy, dilated, 3b 10.4 DMD GK
12 dsg2-related dilated cardiomyopathy 10.4 DMD SGCA
13 hiatus hernia 10.3 DMD NOS1
14 myopathy 10.3
15 galactorrhoea-hyperprolactinaemia 10.3 FKRP FKTN
16 obesity due to sim1 deficiency 10.3 FKRP FKTN
17 mental retardation, x-linked 9/44 10.3 DMD GK
18 hirschsprung disease 5 10.3 FKRP FKTN
19 dilated cardiomyopathy 10.3
20 muscular atrophy 10.2
21 spinal muscular atrophy 10.2
22 cubitus valgus with mental retardation and unusual facies 10.2 DMD LAMA2
23 cardiomyopathy, dilated, 1d 10.2 DMD LAMA2
24 cardiomyopathy, dilated, 1a 10.1 DMD LAMA2
25 properdin deficiency 10.1 DMD NOS1 SGCA
26 lopes gorlin syndrome 10.1 DMD DYSF
27 myositis 10.1
28 malignant hyperthermia 10.1
29 muscle hypertrophy 10.1
30 myotonic dystrophy 10.1
31 limb-girdle muscular dystrophy 10.1
32 epilepsy 10.1
33 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.1 DMD FKTN VCL
34 complement component c2 deficiency 10.0 DMD FKRP FKTN
35 ischemia 10.0
36 growth hormone deficiency 10.0
37 myotonia 10.0
38 spongiotic dermatitis 10.0 DMD LAMA2 UTRN
39 segawa syndrome, recessive 10.0 DMD DYSF
40 vestibulocochlear nerve disease 9.9 DMD NOS1
41 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 9.9 DYSF FKRP
42 creatine phosphokinase, elevated serum 9.9 DYSF FKRP
43 cardiomyopathy, hypertrophic, 25 9.9 DYSF FKRP
44 angelman syndrome 9.9
45 cerebritis 9.9
46 nondystrophic myotonia 9.9
47 inclusion body myositis 9.9
48 neuromuscular disease 9.9
49 charcot-marie-tooth neuropathy 9.9
50 arthritis 9.9

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 via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hyporeflexia

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

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

Cardiovascular- Heart:
cardiomyopathy, late onset


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 difficulty climbing stairs 56 32 hallmark (90%) Very frequent (99-80%) HP:0003551
2 fatigue 56 32 frequent (33%) Frequent (79-30%) HP:0012378
3 muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0001324
4 exercise intolerance 56 32 hallmark (90%) Very frequent (99-80%) HP:0003546
5 muscle cramps 56 32 frequent (33%) Frequent (79-30%) HP:0003394
6 myalgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003326
7 pes planus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001763
8 falls 56 32 frequent (33%) Frequent (79-30%) HP:0002527
9 myoglobinuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0002913
10 difficulty walking 56 32 hallmark (90%) Very frequent (99-80%) HP:0002355
11 toe walking 56 32 occasional (7.5%) Occasional (29-5%) HP:0040083
12 elevated hepatic transaminases 56 32 frequent (33%) Frequent (79-30%) HP:0002910
13 elevated serum creatine phosphokinase 56 32 hallmark (90%) Very frequent (99-80%) HP:0003236
14 skeletal muscle atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003202
15 abnormal urinary color 56 32 hallmark (90%) Very frequent (99-80%) HP:0012086
16 hyporeflexia 32 HP:0001265
17 muscular dystrophy 32 HP:0003560
18 cardiomyopathy 32 HP:0001638
19 arrhythmia 32 HP:0011675
20 calf muscle pseudohypertrophy 32 HP:0003707
21 abnormality of the lower limb 56 Frequent (79-30%)

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 behavior/neurological MP:0005386 9.92 DMD DYSF FKRP FKTN LAMA2 NOS1
2 homeostasis/metabolism MP:0005376 9.91 DMD DYSF FKRP FKTN LAMA2 NOS1
3 immune system MP:0005387 9.76 DMD DYSF FKRP FKTN LAMA2 NOS1
4 muscle MP:0005369 9.65 SGCA SNTA1 UTRN VCL DMD DYSF
5 nervous system MP:0003631 9.23 DMD FKRP FKTN LAMA2 NOS1 SNTA1

Drugs & Therapeutics for Becker Muscular Dystrophy

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

(show top 50) (show all 200)
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 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, 76547-98-3 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
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
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 208)

id Name Status NCT ID Phase Drugs
1 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
2 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
3 Tadalafil in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
4 PDE5 Inhibition to Alleviate Functional Muscle Ischemia in Becker Muscular Dystrophy Completed NCT02207283 Phase 4 Tadalafil;Placebo
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 PTC124 High Dose;PTC124 Low Dose;Placebo
8 High-dose Prednisone in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
9 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
10 L-citrulline and Metformin in Duchenne's Muscular Dystrophy Completed NCT01995032 Phase 3 750 mg metformin and 7.5 g L-citrulline daily p.o.;Placebo
11 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
12 A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Completed NCT01254019 Phase 3 GSK2402968 6mg/kg/week
13 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
14 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
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 glutamine;creatine monohydrate
16 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
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 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
19 A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid Steroids Recruiting NCT02814019 Phase 3 Idebenone 150 mg film-coated tablets;placebo
20 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
21 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
22 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 zoledronic acid
23 A Research Study of Zoledronic Acid in Children and Adolescents With Osteoporosis Recruiting NCT00799266 Phase 3 Zoledronic acid;Placebo
24 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
25 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3 Eplerenone;Spironolactone
26 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Active, not recruiting NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
27 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
28 Confirmatory Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
29 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
30 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3 Ataluren
31 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3 Ataluren
32 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
33 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
34 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
35 Extension Study of Drisapersen in DMD Subjects Terminated NCT02636686 Phase 3 Drisapersen
36 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3 Prednisone
37 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
38 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
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 Drisapersen
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 IGF-1
44 Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy Unknown status NCT01834040 Phase 1, Phase 2
45 Phase II Study of NPC-14 (Arbekacin Sulfate) to Explore Safety, Tolerability, and Efficacy in Duchenne Muscular Dystrophy Unknown status NCT01918384 Phase 2 NPC-14;Placebo
46 Study Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Muscular Dystrophy. Unknown status NCT01834066 Phase 1, Phase 2
47 L-citrulline and Metformin in Becker's Muscular Dystrophy Completed NCT02018731 Phase 2 Metformin and Metformin & L-Citrulline;L-Citrulline and Metformin & L-Citrulline
48 CRD007 for the Treatment of Duchenne Muscular Dystrophy, Becker Muscular Dystrophy and Symptomatic Carriers Completed NCT01540604 Phase 2 CRD007
49 Effect of Modulating the nNOS System on Cardiac, Muscular and Cognitive Function in Becker Muscular Dystrophy Patients Completed NCT01350154 Phase 2 Sildenafil;Placebo
50 Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy Completed NCT00264888 Phase 2 PTC124

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, Bone, Brain, Liver, Cortex

Publications for Becker Muscular Dystrophy

Articles related to Becker Muscular Dystrophy:

(show top 50) (show all 538)
id Title Authors Year
1
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
2
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. ( 28079318 )
2017
3
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies. ( 27750387 )
2017
4
A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy. ( 28288529 )
2017
5
Cardiac involvement in female carriers of Duchenne or Becker muscular dystrophy. ( 28393376 )
2017
6
Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy. ( 28803420 )
2017
7
A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene. ( 28247318 )
2017
8
The PJ Nicholoff Steroid Protocol for Duchenne and Becker Muscular Dystrophy and Adrenal Suppression. ( 28744411 )
2017
9
Repair of an inguinoscrotal hernia in a patient with Becker muscular dystrophy. ( 28098058 )
2017
10
Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy. ( 28316128 )
2017
11
Patients with Duchenne muscular dystrophy are significantly shorter than those with Becker muscular dystrophy, with the higher incidence of short stature in Dp71 mutated subgroup. ( 28734761 )
2017
12
Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy. ( 28745468 )
2017
13
Myocardial Fibrosis in Duchenne and Becker Muscular Dystrophy. ( 28492916 )
2017
14
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. ( 28943641 )
2017
15
Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged a8o3 Years: A Retrospective Study. ( 28533764 )
2017
16
Secondary Conditions Among Males With Duchenne or Becker Muscular Dystrophy. ( 28393671 )
2017
17
Myocardial Fibrosis in Duchenne and Becker Muscular Dystrophy-Reply. ( 28492933 )
2017
18
Cardiomyopathy in becker muscular dystrophy: Overview. ( 27354892 )
2016
19
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
20
A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability. ( 26836830 )
2016
21
Errata: Therapeutic Strategy for Heart Failure in Becker Muscular Dystrophy. ( 27916789 )
2016
22
A Case of Refractory Heart Failure in Becker Muscular Dystrophy Improved With Corticosteroid Therapy. ( 27535714 )
2016
23
Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial. ( 27926769 )
2016
24
Rehabilitative technology use among individuals with Duchenne/Becker muscular dystrophy. ( 26966800 )
2016
25
The 6-minute walk test, motor function measure and quantitative thigh muscle MRI in Becker muscular dystrophy: A cross-sectional study. ( 27209345 )
2016
26
Cardiac involvement in female carriers of Duchenne or Becker muscular dystrophy. ( 27761893 )
2016
27
Therapeutic Strategy for Heart Failure in Becker Muscular Dystrophy. ( 27593540 )
2016
28
Dystrophin Hot-Spot Mutants Leading to Becker Muscular Dystrophy Insert More Deeply into Membrane Models than the Native Protein. ( 27367833 )
2016
29
A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene. ( 27955624 )
2016
30
Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies. ( 26974331 )
2016
31
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. ( 26718981 )
2016
32
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. ( 26911353 )
2016
33
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. ( 27593222 )
2016
34
Effects of Sildenafil on Cerebrovascular Reactivity in Patients with Becker Muscular Dystrophy. ( 27485237 )
2016
35
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. ( 27582364 )
2016
36
Guidelines for the Perianesthesia Care of the Duchenne Muscular Dystrophy/Becker Muscular Dystrophy Patient. ( 27931703 )
2016
37
Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I. ( 27463532 )
2016
38
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript. ( 27616544 )
2016
39
Extensive Functional Evaluations to Monitor Aerobic Training in Becker Muscular Dystrophy: A Case Report. ( 27478558 )
2016
40
Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants. ( 27350676 )
2016
41
Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy. ( 27863875 )
2016
42
Left ventricular hypertrophy: A rare cardiac involvement of Becker muscular dystrophy. ( 27742039 )
2016
43
Prevalence and Genetic Profile of Duchene and Becker Muscular Dystrophy in Puerto Rico. ( 27854217 )
2016
44
Transplantation of human umbilical cord-derived mesenchymal stems cells for the treatment of Becker muscular dystrophy in affected pedigree members. ( 25647308 )
2015
45
Pain in adolescents with spinal muscular atrophy and Duchenne and Becker muscular dystrophy. ( 25978940 )
2015
46
Evidence of Insulin Resistance and Other Metabolic Alterations in Boys with Duchenne or Becker Muscular Dystrophy. ( 26089900 )
2015
47
Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient. ( 26247048 )
2015
48
TNF-I+-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy. ( 26321630 )
2015
49
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. ( 25612904 )
2015
50
Cardiac involvement in Duchenne and Becker muscular dystrophy. ( 26225202 )
2015

Variations for Becker Muscular Dystrophy

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

71
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.

GO Terms for Becker Muscular Dystrophy

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 DMD NOS1 SGCA SNTA1 UTRN VCL
2 protein complex GO:0043234 9.72 DMD NOS1 SNTA1 UTRN VCL
3 membrane raft GO:0045121 9.65 DMD NOS1 SGCA
4 T-tubule GO:0030315 9.49 DYSF NOS1
5 costamere GO:0043034 9.43 DMD VCL
6 filopodium membrane GO:0031527 9.4 DMD UTRN
7 syntrophin complex GO:0016013 9.26 DMD SNTA1
8 dystrophin-associated glycoprotein complex GO:0016010 9.26 DMD FKRP SGCA UTRN
9 sarcolemma GO:0042383 9.23 DMD DYSF FKRP LAMA2 NOS1 SGCA
10 cell-substrate junction GO:0030055 9.16 DMD VCL
11 membrane GO:0016020 10.16 DMD DYSF FKRP FKTN GK NOS1

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

id Name GO ID Score Top Affiliating Genes
1 regulation of heart rate GO:0002027 9.43 DMD SNTA1
2 skeletal muscle tissue regeneration GO:0043403 9.4 DMD SGCA
3 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.37 DMD NOS1
4 muscle contraction GO:0006936 9.35 DYSF SGCA SNTA1 UTRN VCL
5 response to denervation involved in regulation of muscle adaptation GO:0014894 9.33 DMD SGCA UTRN
6 protein O-linked mannosylation GO:0035269 9.32 FKRP FKTN
7 negative regulation of peptidyl-cysteine S-nitrosylation GO:1902083 9.26 DMD SNTA1
8 muscle organ development GO:0007517 9.02 DMD FKTN LAMA2 SGCA UTRN

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

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.54 LAMA2 SNTA1 VCL
2 sodium channel regulator activity GO:0017080 9.32 NOS1 SNTA1
3 nitric-oxide synthase binding GO:0050998 9.26 DMD SNTA1
4 actin binding GO:0003779 9.26 DMD SNTA1 UTRN VCL
5 vinculin binding GO:0017166 9.16 DMD UTRN
6 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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