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Article

Double trouble in a patient with myotonia.

BMJ case reports - 14 Feb 2013

Hehir Michael K, Logigian Eric, Raja Rayan Dipa L, Ciafaloni Emma

Abstract excerpt

Non-dystrophic myotonias (NDM) are characterised by muscle stiffness during voluntary movement owing to delayed skeletal muscle relaxation caused by mutations in the chloride (CLCN1) and sodium (SCN4A) skeletal muscle channel genes. Late onset acid maltase deficiency (AMD) is characterised by progressive respiratory and proximal muscle weakness; electrical but not clinical myotonia can be observed. Case report of...

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Source

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Identifiers

PMID: 23417379
DOI: 10.1136/bcr-2012-008167
PMCID: PMC3604294

Genes

CLCN1

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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