KEGG   DISEASE: Scapuloperoneal myopathy (SPM)Help
H00656                      Disease                                

Scapuloperoneal myopathy (SPM)
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.
Musculoskeletal disease; Nervous system disease
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00656  Scapuloperoneal myopathy (SPM)
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G10-G14  Systemic atrophies primarily affecting the central nervous system
   G12  Spinal muscular atrophy and related syndromes
    H00656  Scapuloperoneal myopathy (SPM)
BRITE hierarchy
Cardiac muscle contraction
Tight junction
MYH7 [HSA:4625] [KO:K17751]
DES [HSA:1674] [KO:K07610]
FHL1 [HSA:2273] [KO:K14365]
Other DBs
PMID:21310615 (description, gene)
Cowling BS, Cottle DL, Wilding BR, D'Arcy CE, Mitchell CA, McGrath MJ
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.
Neuromuscul Disord 21:237-51 (2011)
PMID:17336526 (gene)
Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
Neuromuscul Disord 17:321-9 (2007)
PMID:17439987 (gene)
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
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
Brain 130:1485-96 (2007)

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