KEGG   DISEASE: H00656Help
Entry
H00656                      Disease                                

Name
Scapuloperoneal myopathy (SPM)
Description
Scapuloperoneal syndrome encompasses a heterogeneous group of neuromuscular disorders all characterized by slowly progressive weakness in the shoulder-girdle and peroneal muscles. Both neurogenic and myopathic scapuloperoneal syndromes exist, the latter being referred to as scapuloperoneal myopathy (SPM). Distinct subtypes of SPM are caused by mutations in the sarcomeric muscle proteins desmin and myosin heavy chain 7. The X-linked dominant form of SPM (XSPM) is caused by mutations in the FHL1 gene.
Category
Musculoskeletal disease; Nervous system disease
BRITE hierarchy
Pathway
Cardiac muscle contraction
Tight junction
Gene
MYH7 [HSA:4625] [KO:K17751]
DES [HSA:1674] [KO:K07610]
FHL1 [HSA:2273] [KO:K14365]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21310615 (description, gene)
  Authors
Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ
  Title
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
  Journal
Neuromuscul Disord 21:237-51 (2011)
Reference
PMID:17336526 (gene)
  Authors
Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C
  Title
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
  Journal
Neuromuscul Disord 17:321-9 (2007)
Reference
PMID:17439987 (gene)
  Authors
Walter MC, Reilich P, Huebner A, Fischer D, Schroder R, Vorgerd M, Kress W, Born C, Schoser BG, Krause KH, Klutzny U, Bulst S, Frey JR, Lochmuller H
  Title
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
  Journal
Brain 130:1485-96 (2007)

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