KEGG   DISEASE: Scapulohumeroperoneal myopathy
Entry
H02721                      Disease                                
Name
Scapulohumeroperoneal myopathy
Description
Scapulohumeroperoneal myopathy (SHPM) is an autosomal dominant slowly progressive scapuloperoneal neuromuscular disorder. Clinical characteristics include mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, finger drop of digits 3 to 5, and selective muscle atrophy. A mutation in ACTA1, encoding skeletal muscle actin, has been reported.
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
    8C70  Muscular dystrophy
     H02721  Scapulohumeroperoneal myopathy
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H02721  Scapulohumeroperoneal myopathy
Pathway
hsa04820  Cytoskeleton in muscle cells
Network
nt06539 Cytoskeleton in muscle cells
Gene
ACTA1 [HSA:58] [KO:K10354]
Other DBs
ICD-11: 8C70.Y
ICD-10: G71.0
OMIM: 616852
Reference
PMID:25938801
  Authors
Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bonnemann CG
  Title
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
  Journal
JAMA Neurol 72:689-98 (2015)
DOI:10.1001/jamaneurol.2015.37
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