Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency
SR Lalani, GD Vladutiu, K Plunkett, TE Lotze… - Archives of …, 2005 - jamanetwork.com
Background Primary coenzyme Q 10 (CoQ 10) deficiency is rare. The encephalomyopathic
form, described in few families, is characterized by exercise intolerance, recurrent
myoglobinuria, developmental delay, ataxia, and seizures. Objective To report a rare
manifestation of CoQ 10 deficiency with isolated mitochondrial myopathy without central
nervous system involvement. Methods The patient was evaluated for progressive muscle
weakness. Comprehensive clinical evaluation and muscle biopsy were performed for …
form, described in few families, is characterized by exercise intolerance, recurrent
myoglobinuria, developmental delay, ataxia, and seizures. Objective To report a rare
manifestation of CoQ 10 deficiency with isolated mitochondrial myopathy without central
nervous system involvement. Methods The patient was evaluated for progressive muscle
weakness. Comprehensive clinical evaluation and muscle biopsy were performed for …