KEGG   DISEASE: Fukuyama congenital muscular dystrophy
Entry
H01957                      Disease                                
Name
Fukuyama congenital muscular dystrophy
  Supergrp
Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
Muscular dystrophy-dystroglycanopathy [DS:H02307]
Description
Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive disorders in Japan. It is characterized by severe muscular dystrophy associated with brain malformation. FCMD is caused by mutations in the fukutin gene. Clinical manifestations include neonatal hypotonia, seizures, and delayed motor and speech development.
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
     H01957  Fukuyama congenital muscular dystrophy
Pathway
hsa00515  Mannose type O-glycan biosynthesis
Gene
FKTN [HSA:2218] [KO:K19872]
Other DBs
ICD-11: 8C70.6
ICD-10: G71.2
MeSH: D058494
OMIM: 253800
Reference
PMID:9690476
  Authors
Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T
  Title
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
  Journal
Nature 394:388-92 (1998)
DOI:10.1038/28653
Reference
  Authors
Xiong H, Wang S, Kobayashi K, Jiang Y, Wang J, Chang X, Yuan Y, Liu J, Toda T, Fukuyama Y, Wu X
  Title
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient.
  Journal
Am J Med Genet A 149A:2403-8 (2009)
DOI:10.1002/ajmg.a.33057
LinkDB

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