RGD Reference Report - Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation. - Rat Genome Database

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Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation.

Authors: Bissay, VĂ©ronique  Keymolen, Kathelijn  Lissens, Willy  Laureys, Guy  Schmedding, Eric  De Keyser, Jacques 
Citation: Bissay V, etal., Neuromuscul Disord. 2011 Aug;21(8):590-3. doi: 10.1016/j.nmd.2011.05.006. Epub 2011 Jun 12.
RGD ID: 13208523
Pubmed: (View Article at PubMed) PMID:21664816
DOI: Full-text: DOI:10.1016/j.nmd.2011.05.006

We describe three Belgian families with a L1436P mutation in the SCN4A gene, causing a sodium channel myotonia with an atypical clinical presentation, characterized by late onset painful cold-aggravated myotonia. These families represent a distinct phenotype within the spectrum of sodium channel myotonia.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Scn4a  (sodium voltage-gated channel alpha subunit 4)

Genes (Mus musculus)
Scn4a  (sodium channel, voltage-gated, type IV, alpha)

Genes (Homo sapiens)
SCN4A  (sodium voltage-gated channel alpha subunit 4)


Additional Information