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

(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]
(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]

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)