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Article

Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Dec 2009

Mejaddam A Y, Nennesmo I, Sejersen T

Abstract excerpt

Centronuclear myopathy (CNM) is a rare hereditary congenital myopathy characterized by muscular hypotonia and abnormal centralization of nuclei in muscle fibers. The autosomal recessive (AR) form presents from birth to childhood, followed by a mild progression of muscle weakness. Despite recently identified genetic loci in the AR form, genotype-phenotype correlations are poorly established. Our index case is a 17...

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Source

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Identifiers

PMID: 20476667
PMCID: PMC2858945

Genes

BIN1

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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