KEGG   DISEASE: Sarcoglycanopathies
Entry
H00565                      Disease                                

Name
Sarcoglycanopathies
  Subgroup
Limb-girdle muscular dystrophy (LGMD) 2C
Limb-girdle muscular dystrophy (LGMD) 2D
Limb-girdle muscular dystrophy (LGMD) 2E
Limb-girdle muscular dystrophy (LGMD) 2F
  Supergrp
Limb-girdle muscular dystrophy [DS:H00593]
Description
Sarcoglycanopathies are a group of a four genetically closely related muscular dystrophies with a phenotype often similar to the X-linked Duchenne muscular dystrophy [DS:H00562]. It has been demonstrated that pathological mutations of the alpha-sarcoglycan (SG), beta-SG, gamma-SG, and delta-SG genes cause autosomal recessive muscular dystrophies. Clinical presentation of sarcoglycanopathies is characterized by a slowly progressive proximal muscle weakness, leading to loss of ambulation during adolescence in most patients.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00565  Sarcoglycanopathies
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
     H00565  Sarcoglycanopathies
Gene
(LGMD2C) SGCG [HSA:6445] [KO:K12564]
(LGMD2D) SGCA [HSA:6442] [KO:K12565]
(LGMD2E) SGCB [HSA:6443] [KO:K12566]
(LGMD2F) SGCD [HSA:6444] [KO:K12563]
Other DBs
ICD-11: 8C70.4
ICD-10: G71.0
MeSH: D058088
OMIM: 253700 608099 604286 601287
Reference
  Authors
Kirschner J, Lochmuller H
  Title
Sarcoglycanopathies.
  Journal
Handb Clin Neurol 101:41-6 (2011)
DOI:10.1016/B978-0-08-045031-5.00003-7
Reference
  Authors
Sandona D, Betto R
  Title
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.
  Journal
Expert Rev Mol Med 11:e28 (2009)
DOI:10.1017/S1462399409001203

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