Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 8 year-old female infant with the clinical and pathological characteristics of both progressive muscular dystrophy and mitochondrial myopathy was described. Her maternal cousin had clinical and pathological findings of Duchenne muscular dystrophy (DMD). Since the patient had markedly elevated serum CK and calf muscle hypertrophy, her muscle was biopsied and she was diagnosed as having female DMD at the age of 5 years. She had generalized tonic-clonic convulsions and alternate hemiconvulsions for recent 4 years which brought her our hospital. On admission, she had mild generalized muscle atrophy and weakness predominantly in the proximal limbs. The lactate and pyruvate levels in both serum and cerebrospinal fluid were elevated, but with no metabolic acidosis. Serum CK was elevated to 4464 IU/L. Brain CT and MRI showed the expanding arachnoid cyst in the left middle fossa of cranium. In the biopsied left biceps crachii muscle, in addition to numerous ragged-red fibers, there were active muscular fiber necrosis and regeneration and interstitial fibrosis similar to those seen in progressive muscular dystrophy. Biochemically, no decrease or defect in the respiratory chain enzymes was detected. On electron microscopy, a large number of fibers contained aggregates of giant mitochondria with proliferated complicated cristae. Scattered throughout were necrotic muscle fibers filled with phagocytes and regenerating fibers. This patient had the diagnostic features of mitochondrial encephalomyopathy and progressive muscular dystrophy. We supposed that the patient provided very interesting evidences to study the relationship between mitochondrial myopathy and progressive muscular dystrophy.
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PMID:[A female infant of mitochondrial myopathy with findings of active necrosis and regeneration of muscle fibers]. 238 14