Article
Homoplasmy, heteroplasmy, and mitochondrial dystonia.
Neurology - 28 Aug 2007
McFarland R, Chinnery P F, Blakely E L, Schaefer A M, Morris A A M, Foster S M, Tuppen H A L, Ramesh V, Dorman P J, Turnbull D M, Taylor R W
Abstract excerpt
BACKGROUND: In clinical practice, mitochondrial disease is seldom considered until a variable combination of seizures, alteration in tone, muscle weakness, and developmental problems is evident. However, it is not uncommon for one symptom to occur in isolation and dominate the clinical phenotype. We report six patients from two families where dystonia was the principal clinical manifestation. A mitochondrial...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.