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Article

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

Neuromuscular disorders : NMD - 1 Dec 2013

Fiorillo Chiara, Moro Francesca, Astrea Guja, Morales Maria Aurora, Baldacci Jacopo, Marchese Maria, Scapolan Sara, Bruno Claudio, Battini Roberta, Santorelli Filippo M

Abstract excerpt

Mutations in the fukutin gene were first identified in Japanese patients with classic Fukuyama congenital muscular dystrophy, a severe form of congenital muscular dystrophy associated with cobblestone lissencephaly and ocular defects. Patients of different ethnicities and with milder phenotypes, including limb girdle muscular dystrophy and cardiomyopathy without brain impairment, have also been reported. The...

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Identifiers

PMID: 24144914
DOI: 10.1016/j.nmd.2013.09.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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