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Article

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.

Neurology - 1 Jan 2008

Matthews E, Tan S V, Fialho D, Sweeney M G, Sud R, Haworth A, Stanley E, Cea G, Davis M B, Hanna M G

Abstract excerpt

OBJECTIVE: To study the clinical and genetic features in a large cohort of UK patients with sodium channel paramyotonia congenita. METHODS: We conducted a UK-wide clinical and molecular genetic study of patients presenting with a phenotype suggestive of paramyotonia congenita. RESULTS: We identified 42 affected individuals (28 kindreds). All cases met our core criteria for a clinical diagnosis of paramyotonia...

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Identifiers

PMID: 18166706
DOI: 10.1212/01.wnl.0000287069.21162.94

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