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Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.

Molecular biology reports - 15 Jun 2024

Elaraby Nesma M, Ahmed Hoda A, Dawoud Heba, Ashaat Neveen A, Azmy Ashraf, Galal Eman Reda, Elhusseny Yasmine, Awady Heba El, Metwally Ammal M, Ashaat Engy A

Abstract excerpt

BACKGROUND: Myotonia Congenita (MC) is a rare disease classified into two major forms; Thomsen and Becker disease caused by mutations in the CLCN1 gene, which affects muscle excitability and encodes voltage-gated chloride channels (CLC-1). While, there are no data regarding the clinical and molecular characterization of myotonia in Egyptian patients. METHODS: Herein, we report seven Egyptian MC patients from six...

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PMID: 38877370
DOI: 10.1007/s11033-024-09646-8

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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.

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