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Article

Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.

Archives of neurology - 1 May 2012

Gutiérrez Ríos Purificacion, Kalra Arun A, Wilson Jon D, Tanji Kurenai, Akman Hasan O, Area Gómez Estela, Schon Eric A, DiMauro Salvatore

Abstract excerpt

OBJECTIVES: To describe the first American patient with a congenital muscle dystrophy characterized by the presence in muscle of gigantic mitochondria displaced to the periphery of the fibers and to stress the potential origin and effects of the mitochondrial changes. DESIGN: Case report and documentation of a novel mutation in the gene encoding choline kinase beta (CHKB). SETTING: Collaboration between 2...

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Source

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Identifiers

PMID: 22782513
DOI: 10.1001/archneurol.2011.2333
PMCID: PMC8276349

Genes

CHKB

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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