KEGG DISEASE: Inclusion body myopathy 3

DISEASE: Inclusion body myopathy 3

Entry

H01229                      Disease

Name

Inclusion body myopathy 3

Supergrp

Congenital myopathy [DS:H01810]

Description

Inclusion body myopathy 3 (IBM3) is an autosomal dominant myopathy associated with a heterozygous missense mutation in the myosin heavy chain (MyHC) IIa gene (MYH2), changing the highly conserved and negatively charged glutamate at position 706 to the positively charged lysine (E706K). This region is important for myosin functioning during muscle contraction, because it undergoes conformational changes during adenosine triphosphate (ATP) hydrolysis. Clinical characteristics include congenital joint contractures, a progressive course in adulthood, and external ophthalmoplegia.

Category

Nervous system disease; Musculoskeletal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Nonorgan specific systemic autoimmune disorders
   4A41  Idiopathic inflammatory myopathy
    H01229  Inclusion body myopathy 3

Gene

MYH2 [HSA:4620] [KO:K24220]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:11889243

Authors

Tajsharghi H, Thornell LE, Darin N, Martinsson T, Kyllerman M, Wahlstrom J, Oldfors A

Title

Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age.

Journal

Neurology 58:780-6 (2002)
DOI:10.1212/WNL.58.5.780

Reference

PMID:17434305

Authors

Oldfors A

Title

Hereditary myosin myopathies.

Journal

Neuromuscul Disord 17:355-67 (2007)
DOI:10.1016/j.nmd.2007.02.008

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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