Interested in submitting an e–Pearl? Click here!
Brought to you by the Resident and Fellow Section of Neurology®.
June 12, 2012
Myotonia Congenita is a chloride ion channelopathy of muscle, with symptoms including delayed relaxation of the muscles after voluntary contraction (myotonia), stiffness, muscle hypertrophy, pain, cramping, and transient weakness with some mutations. The disorder is caused by a genetic mutation involving the chloride channel of the muscles. In addition to humans, it is also seen in some goats, canines and horses. Read more about the importance of exon deletions and duplications in the CLCN1 gene in the analysis of recessive cases of Myotonia Congenita in this week's issue of Neurology.
1. Rayan DLR, Haworth A, Sud R. A new explanation for recessive Myotonia Congenita – exon deletions and duplications in CLCN1. Neurology 2012; 78: 1953–1958.
2. Lossin C, George AL . Myotonia congenita. Adv Genet 2008; 63:25–55.
Submitted by: Stacey L. Clardy, MD, PhD
Disclosure: Dr. Clardy serves on the editorial team for the Neurology® Resident and Fellow Section.
For more clinical pearls and other articles of interest to neurology trainees, visit www.neurology.org and click on the link to the Resident and Fellow Pages. Click here to visit the E–Pearl of the Week Archive.
Click here to listen to this week's Neurology® Podcast.