Fukuyama Congenital Muscular Dystrophy in a Young Infant

  title={Fukuyama Congenital Muscular Dystrophy in a Young Infant},
  author={이해정 and 이인설 and Jong Hee Chae and Jun Hwa Lee},
  journal={Journal of the korean child neurology society},
Fukuyama 선천성 근이영양증은 일본에서 흔히 발생하는 상염색체 열성 유전 질환으로서, 영아기에 발병하는 근긴장 저하와 발달 장애를 초래하는 것이 특징적인 임상 소견이다. 염색체 9q31에 위치한 fukutin gene의 돌연변이에 의한 α-dystroglycan의 글리코실화 반응 저하로 인해 근이영양증 및 눈과 뇌의 이상을 초래하는 것으로 알려져... 



The ever‐expanding spectrum of congenital muscular dystrophies

The aim of this review is to discuss the most recent advances inCongenital muscular dystrophies, providing a conceptual framework to help the understanding of the responsible mechanisms and, when available, an update on the therapeutic perspectives.

Phenotypic spectrum associated with mutations in the fukutin‐related protein gene

Twenty patients with mutations in the fukutin‐related protein (FKPR) gene showed a Duchenne‐like course with loss of ambulation in the early teens while 7 had a milder phenotype and patients with LGMD2I shared a common mutation and their phenotypic severity was correlated with the second allelic mutation.

Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy

A critical role is suggested for fukutin gene mutation in the loss or modification of glycosylation of the extracellular peripheral membrane protein, α-dystroglycan, which may cause a crucial disruption of the transmembranous molecular linkage of muscle fibers in patients with FCMD.

Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.

  • U. Reed
  • Medicine
    Arquivos de neuro-psiquiatria
  • 2009
The main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD, including MDC1A with merosin deficiency, collagen VI related CMDs (Ullrich and Bethlem), and rigid spine syndrome are analysed.

Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

Under-took a systematic analysis of the FCMD gene in 107 unrelated patients, and provided strong evidence that loss of function of fukutin is the major cause of FCMD, and appeared to shed some light on the mechanism responsible for the broad clinical spectrum seen in this disease.

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

There is a retrotransposal insertion of tandemly repeated sequences within this candidate-gene interval in all FCMD chromosomes carrying the founder haplotype (87%).