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Article

Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.

Muscle & nerve - 1 Jan 2015

Cabrera-Serrano Macarena, Junckerstorff Reimar C, Atkinson Vanessa, Sivadorai Padma, Allcock Richard J, Lamont Phillipa, Laing Nigel G

Abstract excerpt

INTRODUCTION: Mutations in the choline kinase beta (CHKB) gene are associated with a congenital muscular dystrophy with giant mitochondria at the periphery of muscle fibers. METHODS: We describe a patient of Italian origin in whom whole-exome sequencing revealed a novel homozygous nonsense mutation, c.648C>A, p.(Tyr216*), in exon 5 of CHKB. RESULTS: The patient presented with limb-girdle weakness and hypotonia...

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Source

Identifiers

PMID: 25187204
DOI: 10.1002/mus.24446

Genes

CHKB

Variants

Provenance

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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