KEGG   DISEASE: Distal myopathy with anterior tibial onset
Entry
H00566                      Disease                                
Name
Distal myopathy with anterior tibial onset
  Supergrp
Distal myopathy [DS:H00594]
Description
Distal myopathy with anterior tibial onset is an autosomal recessive muscle dystrophy caused by a dysferlin mutation. The disease is rapidly progressive, leading to severe proximal weakness.
Category
Nervous system disease; Musculoskeletal disease
Brite
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
     H00566  Distal myopathy with anterior tibial onset
Gene
DYSF [HSA:8291] [KO:K18261]
Other DBs
ICD-11: 8C75
ICD-10: G71.0
OMIM: 606768
Reference
PMID:11198284
  Authors
Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH
  Title
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
  Journal
Ann Neurol 49:130-4 (2001)
DOI:10.1002/1531-8249(200101)49:1<130::AID-ANA22>3.0.CO;2-0
Reference
PMID:9731526
  Authors
Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr
  Title
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
  Journal
Nat Genet 20:31-6 (1998)
DOI:10.1038/1682
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