KEGG   DISEASE: Congenital muscular dystrophy type 1D
Entry
H01962                      Disease                                
Name
Congenital muscular dystrophy type 1D
  Supergrp
Muscular dystrophy-dystroglycanopathy type B [DS:H01960]
Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
Muscular dystrophy-dystroglycanopathy [DS:H02307]
Description
Congenital muscular dystrophy type 1D (MDC1D) is a form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. MDC1D is caused by mutations in LARGE gene.
Category
Inherited metabolic disorder
Brite
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
     H01962  Congenital muscular dystrophy type 1D
Pathway
hsa00515  Mannose type O-glycan biosynthesis
Gene
LARGE [HSA:9215] [KO:K09668]
Other DBs
ICD-11: 8C70.41
MeSH: D058494
OMIM: 608840
Reference
PMID:12966029
  Authors
Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F
  Title
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
  Journal
Hum Mol Genet 12:2853-61 (2003)
DOI:10.1093/hmg/ddg307
Reference
PMID:21248746
  Authors
Clarke NF, Maugenre S, Vandebrouck A, Urtizberea JA, Willer T, Peat RA, Gray F, Bouchet C, Manya H, Vuillaumier-Barrot S, Endo T, Chouery E, Campbell KP, Megarbane A, Guicheney P
  Title
Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.
  Journal
Eur J Hum Genet 19:452-7 (2011)
DOI:10.1038/ejhg.2010.212
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