Article

Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan

2011-01-01

Abstract

Fukuyama-type congenital muscular dystrophy (FCMD) is a severe form of muscular dystrophy accompanied by abnormalities in the eye and brain. The incidence of FCMD is particularly high in the Japanese population. Mutations in the fukutin gene have been identified in patients with FCMD. Fukutin is predicted to be a Golgi apparatus resident protein and to be involved in the post-translational modification of cell-surface proteins. Recently, progress has been made in our understanding of the molecular mechanisms by which the mutation of fukutin leads to the phenotype of FCMD. Loss of function of fukutin results in defective glycosylation of α-dystroglycan, a central component of the dystrophin-glycoprotein complex, leading to disruption of the linkage between basal lamina and cytoskeleton. This disruption is implicated in the pathogenesis of both the MD and brain anomalies in FCMD. Furthermore, genetic analyses have revealed that the spectrum of the FCMD phenotype is much wider than originally thought. In this review, we summarize the diverging clinical phenotype of FCMD and its molecular pathomechanisms.

Full abstract shown under CC BY

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 02c24e93-1218-5258-8285-a216bd116384
DOI: 10.1186/2044-5040-1-22
PMCID: PMC3156645

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycanDOI 10.1186/2044-5040-1-22Read

Fukuyama‐type congenital muscular dystrophy (FCMD) and α‐dystroglycanopathySemantic proximity Read

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.Semantic proximity Read

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.Semantic proximity Read

[Recent Advances in α-dystroglycanopathy].Semantic proximity Read

[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].Semantic proximity Read

Defective glycosylation in congenital muscular dystrophies.Semantic proximity Read

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.Semantic proximity Read

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.Semantic proximity Read

Functional requirements for fukutin-related protein in the Golgi apparatus.Semantic proximity Read

FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.Semantic proximity Read

<i>Fukutin</i> gene mutations in steroid‐responsive limb girdle muscular dystrophySemantic proximity Read

A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.Semantic proximity Read