KEGG   DISEASE: Welander distal myopathy
Entry
H01975                      Disease                                

Name
Welander distal myopathy
  Supergrp
Distal myopathy [DS:H00594]
Description
Welander distal myopathy (WDM) is an autosomal dominant disorder with late onset predominantly affecting distal extensor muscles of the hands and the feet. The disorder is considered as the most common of the distal myopathies but is almost only seen in Sweden and some parts of Finland. WDM is caused by mutations in TIA1 gene which encodes a key component of stress granules.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H01975  Welander distal myopathy
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C75  Distal myopathies
     H01975  Welander distal myopathy
Gene
TIA1 [HSA:7072] [KO:K13201]
Other DBs
ICD-11: 8C75
ICD-10: G71.0
MeSH: C536690
OMIM: 604454
Reference
PMID:9608564
  Authors
Ahlberg G, Borg K, Edstrom L, Anvret M
  Title
Welander hereditary distal myopathy, a molecular genetic comparison to hereditary myopathies with inclusion bodies.
  Journal
Neuromuscul Disord 8:111-4 (1998)
DOI:10.1016/S0960-8966(98)00007-8
Reference
  Authors
Hackman P, Sarparanta J, Lehtinen S, Vihola A, Evila A, Jonson PH, Luque H, Kere J, Screen M, Chinnery PF, Ahlberg G, Edstrom L, Udd B
  Title
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.
  Journal
Ann Neurol 73:500-9 (2013)
DOI:10.1002/ana.23831

» Japanese version

DBGET integrated database retrieval system