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Article

Muscle biopsy findings in a child with NALCN gene mutation.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Dec 2016

Sivaraman Indu, Friedman Neil R, Prayson Richard A

Abstract excerpt

Mutation in NALCN (Sodium leak channel, non-selective) gene in humans has been shown to present with a wide spectrum of clinical manifestations including neurodevelopmental impairment, hypotonia and congenital contractures. Distinctive features including episodic ataxia and neuroaxonal dystrophy have also been reported. In this case report, we describe the muscle biopsy findings of a 3-year-old boy who presented...

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Source

Identifiers

PMID: 27473021
DOI: 10.1016/j.jocn.2016.06.018

Genes

NALCN

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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