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

Limb-girdle muscular dystrophy (LGMD)
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.
Musculoskeletal disease; Nervous system disease
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
Other types of O-glycan biosynthesis
Mannose type O-glycan biosynthesis
Focal adhesion
hsa04530 Tight junction  
Ubiquitin mediated proteolysis
(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
PMID:21825984 (gene, description)
Nigro V, Aurino S, Piluso G
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.
Curr Opin Neurol 24:429-36 (2011)
PMID:11822024 (gene)
Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.
Am J Hum Genet 70:663-72 (2002)
PMID:21109228 (gene)
Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.
Am J Hum Genet 87:834-41 (2010)

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