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

AbstractOBJECTIVE:
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 congenita. Seventy-five percent of patients (32 patients/20 kindreds) had SCN4A mutations. Twenty-nine subjects from 18 kindreds had exon 22 and 24 mutations, confirming these exons to be hot spots. Unexpectedly, 3 of these subjects harbored mutations previously described with potassium-aggravated myotonia (G1306A, G1306E). We identified two new mutations (R1448L and L1436P). Ten cases (8 kindreds) without mutations exhibited paramyotonia congenita with prominent pain and weakness.
CONCLUSIONS:
This study identifies two new mutations, confirms SCN4A as a common cause of paramyotonia congenita in the UK, and suggests further allelic and possibly genetic heterogeneity.
AuthorsE Matthews, S V Tan, D Fialho, M G Sweeney, R Sud, A Haworth, E Stanley, G Cea, M B Davis, M G Hanna
JournalNeurology (Neurology) Vol. 70 Issue 1 Pg. 50-3 (Jan 01 2008) ISSN: 1526-632X [Electronic] United States
PMID18166706 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
Chemical References
  • NAV1.4 Voltage-Gated Sodium Channel
  • SCN4A protein, human
  • Sodium Channels
  • Arginine
  • Proline
  • Leucine
Topics
  • Action Potentials (physiology)
  • Arginine (genetics)
  • Cohort Studies
  • Exons (genetics)
  • Female
  • Humans
  • Leucine (genetics)
  • Male
  • Mutation
  • Myotonic Disorders (epidemiology, genetics, physiopathology)
  • NAV1.4 Voltage-Gated Sodium Channel
  • Neural Conduction (physiology)
  • Proline (genetics)
  • Sodium Channels (genetics)
  • United Kingdom (epidemiology, ethnology)

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