We describe a large family with exercise intolerance and a homoplasmic m.3250T > C mutation in the mitochondrially encoded tRNA leucine 1 (UUA/G) gene (MT-TL1). Thirteen family members experienced exercise intolerance with fatigue and weakness from early childhood. Inheritance was maternal with 100% penetrance. The course was either static or showed improvement over time. There was no evidence of other organ involvement except for a possible mild transient cardiac enlargement in one child. Muscle biopsy showed isolated complex I deficiency and mitochondrial proliferation.

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