KEGG   DISEASE: Distal myopathy with rimmed vacuoles
Entry
H02586                      Disease                                
Name
Distal myopathy with rimmed vacuoles
  Supergrp
Distal myopathy [DS:H00594]
Description
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal dominant distal myopathy. It has been reported that mutations in SQSTM1 cause this disease. SQSTM1 is an autophagic adaptor that shuttles aggregated and ubiquitinated proteins to the autophagosome.
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
     H02586  Distal myopathy with rimmed vacuoles
Pathway
hsa04140  Autophagy - animal
hsa04137  Mitophagy - animal
hsa04217  Necroptosis
hsa04380  Osteoclast differentiation
Gene
SQSTM1 [HSA:8878] [KO:K14381]
Comment
Formerly, Nonaka myopathy [DS:H00596] was also known as DMRV.
Other DBs
ICD-11: 8C75
ICD-10: G71.8
MeSH: D049310
OMIM: 617158
Reference
PMID:26208961
  Authors
Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evila A, Hackman P, Udd B, Harms MB, Weihl CC
  Title
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.
  Journal
Neurology 85:665-74 (2015)
DOI:10.1212/WNL.0000000000001864
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