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Article

[New congenital muscular dystrophy due to CHKB mutations].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2013

Nishino Ichizo

Abstract excerpt

Congenital muscular dystrophy with mitochondrial structural abnormalities (MIM #602541), or also called megaconial congenital muscular dystrophy, is characterized clinically by early-onset muscle wasting and severe mental retardation, and pathologically by peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy. Based upon the similarity...

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Topics

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Share to PINK1 gene
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Share to Mitochondria, Muscle

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle, Skeletal

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Source

Identifiers

PMID: 24291895
DOI: 10.5692/clinicalneurol.53.1112

Genes

CHKB
PINK1

Provenance

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.

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