Details of Disease

General Information of Disease (ID: DIS5IYHL)

• Disease Name: Becker muscular dystrophy
• Synonyms: Becker's muscular dystrophy; muscular dystrophy, pseudohypertrophic progressive, Becker type; muscular dystrophy, Becker type; muscular dystrophy pseudohypertrophic progressive, Becker type; benign congenital myopathy; Becker dystrophinopathy; Becker muscular dystrophy; benign pseudohypertrophic muscular dystrophy; Becker muscular dystrophy, X-linked recessive; BMD
• Definition: Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
• Disease Hierarchy:
  DIS4550J: Muscle wasting disease
  DIS5IYHL: Becker muscular dystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0010311
  MESH ID: D020388
  UMLS CUI: C0917713
  OMIM ID: 300376
  MedGen ID: 182959
  Orphanet ID: 98895
  SNOMED CT ID: 387732009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 15 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLCN1	TTUYAF3	Strong	Genetic Variation	[1]
DAG1	TT4X7PG	Strong	Genetic Variation	[2]
DYSF	TTA7MXQ	Strong	Genetic Variation	[3]
FST	TTDNM9W	Strong	Biomarker	[4]
GAA	TTLPC70	Strong	Altered Expression	[5]
MGAM	TTXWASR	Strong	Altered Expression	[5]
RSPO3	TT7HJTF	Strong	Genetic Variation	[6]
SGCA	TTS9Q5V	Strong	Genetic Variation	[3]
SGCB	TTEDCQ0	Strong	Genetic Variation	[3]
SGCG	TTSMT9W	Strong	Biomarker	[7]
UTRN	TTNO1VA	Strong	Altered Expression	[8]
CCL2	TTNAY0P	Definitive	Biomarker	[9]
CD4	TTN2JFW	Definitive	Biomarker	[9]
DMD	TT2TNRM	Definitive	X-linked	[10]
POSTN	TT8ALTZ	Definitive	Biomarker	[9]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MMEL1	DEYCUQ2	Definitive	Biomarker	[11]

This Disease Is Related to 20 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BEST1	OTWHE1ZC	Limited	Genetic Variation	[12]
ANO5	OTOW8R6H	Strong	Biomarker	[7]
CAPN3	OTCHG3YK	Strong	Biomarker	[13]
CPED1	OTJJPZOZ	Strong	Biomarker	[14]
DTNA	OTVBIRH2	Strong	Genetic Variation	[15]
ELP1	OTYEWBF7	Strong	Genetic Variation	[16]
FKRP	OTMUZ7GH	Strong	Biomarker	[13]
LARGE1	OTUH7H9F	Strong	Altered Expression	[2]
LDB3	OTGQL1AM	Strong	Genetic Variation	[15]
RGN	OTD04KB1	Strong	Biomarker	[17]
SALL1	OTYYZGLH	Strong	Biomarker	[18]
SHOX	OTE0YZJO	Strong	Genetic Variation	[19]
TRIM32	OTJOV0PG	Strong	Altered Expression	[20]
DMD	OTD21T5J	Definitive	X-linked	[10]
FAM168B	OT312DUH	Definitive	Biomarker	[21]
GK	OTK2YRA0	Definitive	Genetic Variation	[22]
HLA-DMB	OT17HGXJ	Definitive	Biomarker	[23]
MYF6	OTLLMHMI	Definitive	Biomarker	[24]
PLXNB1	OTCA7JIT	Definitive	Biomarker	[11]
TPPP3	OTU8VUIG	Definitive	Biomarker	[21]

References

• [1] A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401??G?A) in CLCN1 gene of a Chinese Han patient.BMC Neurol. 2018 Sep 22;18(1):154. doi: 10.1186/s12883-018-1153-x.
• [2] LARGE expression in different types of muscular dystrophies other than dystroglycanopathy.BMC Neurol. 2018 Dec 15;18(1):207. doi: 10.1186/s12883-018-1207-0.
• [3] Decorin and biglycan expression is differentially altered in several muscular dystrophies.Brain. 2005 Nov;128(Pt 11):2546-55. doi: 10.1093/brain/awh635. Epub 2005 Sep 23.
• [4] A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy.Mol Ther. 2015 Jan;23(1):192-201. doi: 10.1038/mt.2014.200. Epub 2014 Oct 17.
• [5] Interpretation of acid -glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy.Brain Dev. 2018 Oct;40(9):837-840. doi: 10.1016/j.braindev.2018.05.001. Epub 2018 May 16.
• [6] Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.Nat Commun. 2016 Jan 6;7:10129. doi: 10.1038/ncomms10129.
• [7] Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies.Neurology. 2012 Oct 16;79(16):1716-23. doi: 10.1212/WNL.0b013e31826e9b73. Epub 2012 Oct 3.
• [8] Dystrophin-associated protein abnormalities in dystrophin-deficient muscle fibers from symptomatic and asymptomatic Duchenne/Becker muscular dystrophy carriers.Acta Neuropathol. 1996 Oct;92(4):369-77. doi: 10.1007/s004010050532.
• [9] Inhibiting TGF- activity improves respiratory function in mdx mice.Am J Pathol. 2011 Jun;178(6):2611-21. doi: 10.1016/j.ajpath.2011.02.024.
• [10] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [11] Extra-muscle involvement in dystrophinopathies: an electroretinography and evoked potential study.J Neurol Sci. 1997 Mar 10;146(2):127-32. doi: 10.1016/s0022-510x(96)00292-4.
• [12] How the central domain of dystrophin acts to bridge F-actin to sarcolemmal lipids.J Struct Biol. 2020 Jan 1;209(1):107411. doi: 10.1016/j.jsb.2019.107411. Epub 2019 Nov 2.
• [13] Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.BMC Musculoskelet Disord. 2012 Mar 23;13:43. doi: 10.1186/1471-2474-13-43.
• [14] Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus.PLoS Genet. 2012 Jul;8(7):e1002718. doi: 10.1371/journal.pgen.1002718. Epub 2012 Jul 5.
• [15] Genetic heterogeneity of left-ventricular noncompaction cardiomyopathy.Clin Cardiol. 2008 May;31(5):201-4. doi: 10.1002/clc.20202.
• [16] Dystrophin Hot-Spot Mutants Leading to Becker Muscular Dystrophy Insert More Deeply into Membrane Models than the Native Protein.Biochemistry. 2016 Jul 26;55(29):4018-26. doi: 10.1021/acs.biochem.6b00290. Epub 2016 Jul 14.
• [17] Bone Degeneration and Its Recovery in SMP30/GNL-Knockout Mice.J Nutr Health Aging. 2017;21(5):573-578. doi: 10.1007/s12603-016-0841-8.
• [18] The lumbar spine age-related degenerative disease influences the BMD not the TBS: the Osteolaus cohort.Osteoporos Int. 2017 Mar;28(3):909-915. doi: 10.1007/s00198-016-3829-7. Epub 2016 Nov 30.
• [19] Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes.Horm Res. 2008;69(2):124-8. doi: 10.1159/000111816. Epub 2007 Dec 5.
• [20] The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy.Lab Invest. 2016 Aug;96(8):862-71. doi: 10.1038/labinvest.2016.63. Epub 2016 Jun 13.
• [21] A deletion hot spot in the Duchenne muscular dystrophy gene.Genomics. 1988 Feb;2(2):101-8. doi: 10.1016/0888-7543(88)90090-0.
• [22] A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci.Neuromuscul Disord. 1997 Dec;7(8):499-504. doi: 10.1016/s0960-8966(97)00114-4.
• [23] Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages.Neuromuscul Disord. 1991;1(3):177-83. doi: 10.1016/0960-8966(91)90022-k.
• [24] Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy.Neuromuscul Disord. 2000 Dec;10(8):572-7. doi: 10.1016/s0960-8966(00)00150-4.