KEGG   DISEASE: Scapuloperoneal myopathy
H00656                      Disease                                
Scapuloperoneal myopathy
Congenital myopathy [DS:H01810]
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.
Nervous system disease; Musculoskeletal disease
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
     H00656  Scapuloperoneal myopathy
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00656  Scapuloperoneal myopathy
hsa04820 Cytoskeleton in muscle cells   
nt06539 Cytoskeleton in muscle cells
(SPMM) MYH7 [HSA:4625] [KO:K17751]
(SCPNK) DES [HSA:1674] [KO:K07610]
(SPM) FHL1 [HSA:2273] [KO:K14365]
Other DBs
ICD-11: 8C70.5
ICD-10: G12.1
MeSH: C536624
OMIM: 608358 181400 300695
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 (MYH7)
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 (DES)
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)
PMID:18179901 (FHL1)
Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camano P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
Am J Hum Genet 82:208-13 (2008)

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