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Article

A case report of recessive myotonia congenita and early onset cognitive impairment: Is it a causal or casual link?

Medicine - 1 Jun 2018

Portaro Simona, Cacciola Alberto, Naro Antonino, Milardi Demetrio, Morabito Rosa, Corallo Francesco, Marino Silvia, Bramanti Alessia, Mazzon Emanuela, Calabrò Rocco Salvatore

Abstract excerpt

RATIONALE: Myotonia congenita (MC) is a non-dystrophic myotonia inherited either in dominant (Thomsen) or recessive (Becker) form. MC is due to an abnormal functioning of skeletal muscle voltage-gated chloride channel (CLCN1), but the genotype/phenotype correlation remains unclear. PATIENT CONCERNS: A 48-year-old man, from consanguineous parents, presented with a fixed muscle weakness, muscle atrophy, and a...

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Source

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Identifiers

PMID: 29851785
DOI: 10.1097/MD.0000000000010785
PMCID: PMC6392771

Genes

CLCN1

Provenance

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