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Article

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

Neuromuscular disorders : NMD - 1 May 2009

Puckett Rebecca L, Moore Steven A, Winder Thomas L, Willer Tobias, Romansky Stephen G, Covault Kelly King, Campbell Kevin P, Abdenur Jose E

Abstract excerpt

The dystroglycanopathies comprise a clinically and genetically heterogeneous group of muscular dystrophies characterized by deficient glycosylation of alpha-dystroglycan. Mutations in the fukutin (FKTN) gene have primarily been identified among patients with classic Fukuyama congenital muscular dystrophy (FCMD), a severe form of dystroglycanopathy characterized by CMD, cobblestone lissencephaly and ocular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19342235
DOI: 10.1016/j.nmd.2009.03.001
PMCID: PMC2698593

Genes

FKTN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.PMID 19342235Read ↗

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

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A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.Semantic proximity Read ↗

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

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

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.Semantic proximity Read ↗

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

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.Semantic proximity Read ↗

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