Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNA(Pro) gene

We studied a 9-year-old girl with progressive weakness of her extremities for two years. Her neurologic evaluation showed weakness of proximal muscles but no ophthalmoparesis. With the exception of elevated serum lactic acid, the general blood screen, EMG, nerve conduction velocity tests, and ECG were normal. Light and electron microscopy of a muscle biopsy showed proliferation of mitochondria containing disorganized cristae. Activities of respiratory chain enzymes containing mitochondrial DNA (mtDNA)-encoded subunits were significantly impaired in muscle homogenates. A G-->A transition at position 15990 previously detected in this patient's muscle was not present in peripheral blood cells of her mother or sister. However, the patient's WBCs appeared to contain a very small percentage of mutant mtDNAs, indicating that the mutation may have originated during early embryogenesis.