KEGG   DISEASE: Limb-girdle muscular dystrophy
H00593                      Disease                                

Limb-girdle muscular dystrophy
Sarcoglycanopathies [DS:H00565]
Limb-girdle muscular dystrophy 1C [DS:H00567]
Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT)
Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures (MRRSDC)
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 (LGMDD) and the autosomal recessive forms (LGMDR). According to the disease mechanisms, the LGMDs may be grouped as follows: dystrophin-dystroglycan complex defects, membrane defects, enzymatic, sarcomeric, and nuclear lamina.
Nervous system disease; Musculoskeletal disease
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00593  Limb-girdle muscular dystrophy
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
     H00593  Limb-girdle muscular dystrophy
hsa00514  Other types of O-glycan biosynthesis
hsa04512  ECM-receptor interaction
(LGMDD1/1E) DNAJB6 [HSA:10049] [KO:K09512]
(LGMDD2/1F) TNPO3 [HSA:23534] [KO:K15436]
(LGMDD3/1G) HNRNPDL [HSA:9987] [KO:K13044]
(LGMDD4/R1/2A) CAPN3 [HSA:825] [KO:K08573]
(LGMDR2/2B) DYSF [HSA:8291] [KO:K18261]
(LGMDR3/2D) SGCA [HSA:6442] [KO:K12565]
(LGMDR4/2E) SGCB [HSA:6443] [KO:K12566]
(LGMDR5/2C) SGCG [HSA:6445] [KO:K12564]
(LGMDR6/2F) SGCD [HSA:6444] [KO:K12563]
(LGMDR7/2G) TCAP [HSA:8557] [KO:K19879]
(LGMDR8/2H) TRIM32 [HSA:22954] [KO:K10607]
(LGMDR9/2I) FKRP [HSA:79147] [KO:K19873]
(LGMDR10/2J) TTN [HSA:7273] [KO:K12567]
(LGMDR11/2K) POMT1 [HSA:10585] [KO:K00728]
(LGMDR12/2L) ANO5 [HSA:203859] [KO:K19480]
(LGMDR13/2M) FKTN [HSA:2218] [KO:K19872]
(LGMDR14/2N) POMT2 [HSA:29954] [KO:K00728]
(LGMDR15/2O) POMGNT1 [HSA:55624] [KO:K09666]
(LGMDR16/2P) DAG1 [HSA:1605] [KO:K06265]
(LGMDR17/2Q) PLEC1 [HSA:5339] [KO:K10388]
(LGMDR18/2S) TRAPPC11 [HSA:60684] [KO:K20308]
(LGMDR19/2T) GMPPB [HSA:29925] [KO:K00966]
(LGMDR20/2U) ISPD [HSA:729920] [KO:K21031]
(LGMDR21/2Z) POGLUT1 [HSA:56983] [KO:K13667]
(LGMDR23) LAMA2 [HSA:3908] [KO:K05637]
(LGMDR24) POMGNT2 [HSA:84892] [KO:K18207]
(LGMDR25/2X) BVES [HSA:11149] [KO:K21108]
(LGMDR26) POPDC3 [HSA:64208]
(MDRCMTT/LGMD2W) LIMS2 [HSA:55679] [KO:K23354]
(MRRSDC/LGMD2Y) TOR1AIP1 [HSA:26092] [KO:K23001]
Other DBs
ICD-11: 8C70.4
ICD-10: G71.0
MeSH: D049288
OMIM: 603511 608423 609115 618129 253600 253601 608099 604286 253700 601287 601954 254110 607155 608807 609308 611307 611588 613158 613157 613818 613723 615356 615352 616052 617232 618138 618135 616812 618848 616827 617072
Nigro V, Aurino S, Piluso G
Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.
Curr Opin Neurol 24:429-36 (2011)
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)
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)

» Japanese version

DBGET integrated database retrieval system