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Article

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

Journal of inherited metabolic disease - 1 Nov 2015

Haliloglu Goknur, Talim Beril, Sel Cigdem Genc, Topaloglu Haluk

Abstract excerpt

A new form of congenital muscular dystrophy (CMD) with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta (CHKB) gene defects has been characterized by intellectual disability, autistic features, ichthyosis-like skin changes, and dilated cardiomyopathy. We define the clinical characteristics in 15 patients, from 14 unrelated families with so-called 'megaconial...

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Source

Identifiers

PMID: 26067811
DOI: 10.1007/s10545-015-9856-2

Genes

CHKB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.PMID 26067811Read ↗

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Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.Semantic proximity Read ↗

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