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Article

Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.

Circulation journal : official journal of the Japanese Circulation Society - 1 Jan 2009

Arimura Takuro, Hayashi Yukiko K, Murakami Terumi, Oya Yasushi, Funabe Sayaka, Arikawa-Hirasawa Eri, Hattori Nobutaka, Nishino Ichizo, Kimura Akinori

Abstract excerpt

BACKGROUND: Mutations in FKTN encoding for fukutin cause Fukuyama-type congenital muscular dystrophy characterized by severe muscle wasting and hypotonia with mental retardation. Fukuyama-type congenital muscular dystrophy is a recessive genetic trait. FKTN mutations in patients with dilated cardiomyopathy (DCM) have been investigated by our research group. The patients showed hyper-CKemia with mild or no muscle...

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Topics

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Share to Cardiomyopathy, Dilated
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Creatine Kinase

Share to Membrane Proteins

Share to Muscular Dystrophies

Share to Mutagenesis, Insertional

Share to Mutation, Missense

Source

Identifiers

PMID: 19015585
DOI: 10.1253/circj.cj-08-0722

Genes

FKTN

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.

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Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.PMID 19015585Read ↗

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