A mitochondrial encephalomyopathy with cardiomyopathy: a case revealing a defect of complex I in the respiratory chain
M Nishizawa, K Tanaka, K Shinozawa… - Journal of the …, 1987 - Elsevier
We describe a 16-year-old Japanese girl with a mitochondrial encephalomyopathy who
presented with progressive dementia, limb weakness and atrophy, episodic vomiting,
generalized convulsions, myoclonic seizures, and hypertrophic cardiomyopathy. CT scan
revealed transient focal low density areas in her occipital and parietal lobes, and cerebellar
atrophy. The clinical features were consistent with mitochondrial myopathy, encephalopathy,
lactic acidosis, and strokelike episodes (MELAS). Microscopically, most of muscle fibers in …
presented with progressive dementia, limb weakness and atrophy, episodic vomiting,
generalized convulsions, myoclonic seizures, and hypertrophic cardiomyopathy. CT scan
revealed transient focal low density areas in her occipital and parietal lobes, and cerebellar
atrophy. The clinical features were consistent with mitochondrial myopathy, encephalopathy,
lactic acidosis, and strokelike episodes (MELAS). Microscopically, most of muscle fibers in …