KEGG DISEASE: Scapuloperoneal myopathy

DISEASE: Scapuloperoneal myopathy

Entry

H00656                      Disease

Name

Scapuloperoneal myopathy

Supergrp

Congenital myopathy [DS:H01810]

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

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
     H00656  Scapuloperoneal myopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00656  Scapuloperoneal myopathy

Pathway

hsa04820 Cytoskeleton in muscle cells

Network

nt06539 Cytoskeleton in muscle cells

Gene

(SPMM) MYH7 [HSA:4625] [KO:K17751]
(SCPNK) DES [HSA:1674] [KO:K07610]
(SPM) FHL1 [HSA:2273] [KO:K14365]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:21310615

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)
DOI:10.1016/j.nmd.2011.01.001

Reference

PMID:17336526 (MYH7)

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)
DOI:10.1016/j.nmd.2007.01.010

Reference

PMID:17439987 (DES)

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)
DOI:10.1093/brain/awm039

Reference

PMID:18179901 (FHL1)

Authors

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

Title

X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.

Journal

Am J Hum Genet 82:208-13 (2008)
DOI:10.1016/j.ajhg.2007.09.013

» Japanese version

All links

Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (3)   
   OMIM (3)   
Gene (6)   
   KEGG ORTHOLOGY (3)   
   KEGG GENES (3)   
Literature (4)   
   PubMed (4)   
All databases (15)   

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