KEGG   DISEASE: H00593Help
Entry
H00593                      Disease                                

Name
Limb-girdle muscular dystrophy (LGMD)
Description
Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited disorders characterized by progressive muscle weakness that begins from the proximal limb muscles. The disease is not congenital, with the age at onset of symptoms varying from early childhood to late adulthood. The primary distinction is between the autosomal dominant (LGMD1) and the autosomal recessive forms (LGMD2). According to the disease mechanisms, the LGMDs may be grouped as follows: dystrophin-dystroglycan complex defects LGMD2C, D, E, F, I, K, M, N, O, P; membrane defects LGMD1C, LGMD2B, L; enzymatic LGMD2A, H; sarcomeric LGMD1A, LGMD2G, J; and nuclear lamina LGMD1B.
Category
Musculoskeletal disease; Nervous system disease
BRITE hierarchy
Pathway
Other types of O-glycan biosynthesis
Endocytosis
Focal adhesion
Ubiquitin mediated proteolysis
Gene
(LGMD1A) TTID [HSA:9499]
(LGMD1B) LMNA [HSA:4000] [KO:K12641]
(LGMD1C) CAV3 [HSA:859] [KO:K12959]
(LGMD2A) CAPN3 [HSA:825] [KO:K08573]
(LGMD2B) DYSF [HSA:8291] [KO:K18261]
(LGMD2C) SGCG [HSA:6445] [KO:K12564]
(LGMD2D) SGCA [HSA:6442] [KO:K12565]
(LGMD2E) SGCB [HSA:6443] [KO:K12566]
(LGMD2F) SGCD [HSA:6444] [KO:K12563]
(LGMD2G) TCAP [HSA:8557]
(LGMD2H) TRIM32 [HSA:22954] [KO:K10607]
(LGMD2I) FKRP [HSA:79147]
(LGMD2K) POMT1 [HSA:10585] [KO:K00728]
(LGMD2L) ANO5 [HSA:203859]
(LGMD2M) FKTN [HSA:2218]
(LGMD2N) POMT2 [HSA:29954] [KO:K00728]
(LGMD2O) POMGnT1 [HSA:55624] [KO:K09666]
(LGMD2P) DAG1 [HSA:1605] [KO:K06265]
(LGMD2Q) PLEC1 [HSA:5339] [KO:K10388]
Other DBs
Reference
PMID:21825984 (gene, description)
  Authors
Nigro V, Aurino S, Piluso G
  Title
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.
  Journal
Curr Opin Neurol 24:429-36 (2011)
Reference
PMID:11822024 (gene)
  Authors
Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K
  Title
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.
  Journal
Am J Hum Genet 70:663-72 (2002)
Reference
PMID:21109228 (gene)
  Authors
Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P
  Title
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes  autosomal-recessive limb-girdle muscular dystrophy.
  Journal
Am J Hum Genet 87:834-41 (2010)

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