Details of Disease

Disease Name

Distal myopathy

Miyoshi muscular dystrophy; distal muscular dystrophy; distal myopathy

Definition

Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.

Disease Hierarchy

DIS4550J: Muscle wasting disease

DIS7F5R0: Distal myopathy

Disease Identifiers

MONDO ID

MONDO_0018949

MESH ID

D049310

UMLS CUI

C0751336

MedGen ID

155541

Orphanet ID

599

SNOMED CT ID

58795000

General Information of Disease (ID: DIS7F5R0)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DYSF	TTA7MXQ	Limited	Genetic Variation	[1]
GNE	TT4DP5S	Strong	Genetic Variation	[2]
HSPB8	TTY0OJN	Strong	Genetic Variation	[3]
MYH7	TTNIMDP	Strong	Genetic Variation	[4]
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This Disease Is Related to 16 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA1	OTOVGLPG	Strong	Genetic Variation	[5]
ADSS1	OTF6FE38	Strong	Biomarker	[6]
ANO5	OTOW8R6H	Strong	Genetic Variation	[7]
DNAJB6	OTMHIIAN	Strong	Genetic Variation	[8]
DSG2	OTJPB2TO	Strong	Genetic Variation	[4]
FLNC	OT3F8J6Y	Strong	Genetic Variation	[9]
LAMA2	OTFROQWE	Strong	Genetic Variation	[10]
LDB3	OTGQL1AM	Strong	Genetic Variation	[11]
MATR3	OTESJ5S7	Strong	Genetic Variation	[12]
MYOT	OTCEW5XW	Strong	Genetic Variation	[13]
NEB	OT7P9IR3	Strong	Genetic Variation	[14]
OBSCN	OTT14OVX	Strong	Genetic Variation	[15]
PIK3C2A	OTFBU4GD	Strong	Altered Expression	[16]
PSMG3	OT0TJQYZ	Strong	Genetic Variation	[17]
TTN	OT0LZ058	Strong	Genetic Variation	[18]
CAV3	OTWSFDB4	Definitive	Genetic Variation	[19]
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⏷ Show the Full List of 16 DOT(s)

References

1	Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.Ann Clin Transl Neurol. 2019 Mar 3;6(4):642-654. doi: 10.1002/acn3.738. eCollection 2019 Apr.
2	GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.Muscle Nerve. 2018 Nov;58(5):700-707. doi: 10.1002/mus.26337. Epub 2018 Oct 3.
3	Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.Eur J Neurol. 2018 Jan;25(1):154-163. doi: 10.1111/ene.13478. Epub 2017 Dec 2.
4	Distal myopathy induced arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant.Int J Cardiol. 2020 Jan 1;298:25-31. doi: 10.1016/j.ijcard.2019.10.007. Epub 2019 Oct 7.
5	Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1.Neuromuscul Disord. 2019 Mar;29(3):247-250. doi: 10.1016/j.nmd.2018.12.001. Epub 2018 Dec 10.
6	Comparative transcriptome analysis of skeletal muscle in ADSSL1 myopathy.Neuromuscul Disord. 2019 Apr;29(4):274-281. doi: 10.1016/j.nmd.2018.11.003. Epub 2018 Nov 22.
7	Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy.Neuromuscul Disord. 2019 Aug;29(8):628-633. doi: 10.1016/j.nmd.2019.06.005. Epub 2019 Jun 12.
8	Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.Eur J Neurol. 2018 May;25(5):790-794. doi: 10.1111/ene.13598. Epub 2018 Mar 30.
9	Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC.Neuromuscul Disord. 2017 Jan;27(1):73-77. doi: 10.1016/j.nmd.2016.09.017. Epub 2016 Sep 27.
10	Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.Methods Mol Biol. 2018;1828:79-90. doi: 10.1007/978-1-4939-8651-4_5.
11	A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.Neuropathology. 2017 Feb;37(1):45-51. doi: 10.1111/neup.12328. Epub 2016 Aug 21.
12	Characterization of gene regulation and protein interaction networks for Matrin 3 encoding mutations linked to amyotrophic lateral sclerosis and myopathy.Sci Rep. 2018 Mar 6;8(1):4049. doi: 10.1038/s41598-018-21371-4.
13	Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?.J Neurol Sci. 2009 Feb 15;277(1-2):167-71. doi: 10.1016/j.jns.2008.10.019. Epub 2008 Nov 22.
14	Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy.Eur J Med Genet. 2015 Oct;58(10):556-61. doi: 10.1016/j.ejmg.2015.09.009. Epub 2015 Sep 25.
15	A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.PLoS One. 2017 Oct 26;12(10):e0186642. doi: 10.1371/journal.pone.0186642. eCollection 2017.
16	Distal myopathy.Tohoku J Exp Med. 1990 Aug;161 Suppl:1-19. doi: 10.1620/tjem.161.supplement_1.
17	Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus.Neurogenetics. 2003 Aug;4(4):173-7. doi: 10.1007/s10048-003-0154-z. Epub 2003 Jun 27.
18	A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.Eur J Hum Genet. 2017 May;25(5):572-581. doi: 10.1038/ejhg.2017.16. Epub 2017 Mar 15.
19	Mutation in the caveolin-3 gene causes asymmetrical distal myopathy.Neuropathology. 2016 Oct;36(5):485-489. doi: 10.1111/neup.12297. Epub 2016 Mar 7.