KEGG DISEASE: Fukuyama congenital muscular dystrophy

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:

ICD-10:

MeSH:

OMIM:

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

PMID:19842201

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

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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