Article
Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1.
European journal of neurology - 1 Apr 2017
Darin N, Hedberg-Oldfors C, Kroksmark A-K, Moslemi A-R, Kollberg G, Oldfors A
Abstract excerpt
BACKGROUND AND PURPOSE: Most mitochondrial disorders with onset in early childhood are progressive and involve multiple organs. The m.3250T>C mutation in MTTL1 has previously been described in a few individuals with a possibly riboflavin-responsive myopathy and an association with sudden infant death syndrome was suspected. We describe a large family with this mutation and evaluate the effect of riboflavin...
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