KEGG   DISEASE: Limb-girdle muscular dystrophy (LGMD)Help
Entry
H00593                      Disease                                

Name
Limb-girdle muscular dystrophy (LGMD)
  Subgroup
Sarcoglycanopathies [DS:H00565]
Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
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
Nervous system disease; Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00593  Limb-girdle muscular dystrophy (LGMD)
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G70-G73  Diseases of myoneural junction and muscle
   G71  Primary disorders of muscles
    H00593  Limb-girdle muscular dystrophy (LGMD)
BRITE hierarchy
Pathway
hsa00514  Other types of O-glycan biosynthesis
hsa00515  Mannose type O-glycan biosynthesis
hsa04144  Endocytosis
hsa04510  Focal adhesion
hsa04530  Tight junction
hsa04120  Ubiquitin mediated proteolysis
Gene
(LGMD1A) TTID [HSA:9499] [KO:K19875]
(LGMD1B) LMNA [HSA:4000] [KO:K12641]
(LGMD1C) CAV3 [HSA:859] [KO:K12959]
(LGMD1E) DNAJB6 [HSA:10049] [KO:K09512]
(LGMD1F) TNPO3 [HSA:23534] [KO:K15436]
(LGMD1G) HNRNPDL [HSA:9987] [KO:K13044]
(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] [KO:K19879]
(LGMD2H) TRIM32 [HSA:22954] [KO:K10607]
(LGMD2I) FKRP [HSA:79147] [KO:K19873]
(LGMD2J) TTN [HSA:7273] [KO:K12567]
(LGMD2K) POMT1 [HSA:10585] [KO:K00728]
(LGMD2L) ANO5 [HSA:203859] [KO:K19480]
(LGMD2M) FKTN [HSA:2218] [KO:K19872]
(LGMD2N) POMT2 [HSA:29954] [KO:K00728]
(LGMD2O) POMGnT1 [HSA:55624] [KO:K09666]
(LGMD2P) DAG1 [HSA:1605] [KO:K06265]
(LGMD2Q) PLEC1 [HSA:5339] [KO:K10388]
(LGMD2R) DES [HSA:1674] [KO:K07610]
(LGMD2S) TRAPPC11 [HSA:60684] [KO:K20308]
(LGMD2T) GMPPB [HSA:29925] [KO:K00966]
(LGMD2U) ISPD [HSA:729920] [KO:K21031]
(LGMD2W) LIMS2 [HSA:55679]
(LGMD2X) BVES [HSA:11149] [KO:K21108]
(LGMD2Y) TOR1AIP1 [HSA:26092]
(LGMD2Z) POGLUT1 [HSA:56983] [KO:K13667]
Other DBs
ICD-10: G71.0
MeSH: D049288
OMIM: 159000 159001 607801 603511 608423 609115 253600 253601 253700 608099 604286 601287 601954 607155 608807 609308 611307 611588 613158 613157 613818 254110 613723 615325 615356 615352 616052 616827 616812 617072 617232
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)
DOI:10.1097/WCO.0b013e32834aa38d
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)
DOI:10.1086/339083
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)
DOI:10.1016/j.ajhg.2010.10.017

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