Szukana fraza: [Abstrakt = "A 41\-year\-old patient with suspected metabolic miopathy was examined. A biopsy of quadricepssinister was performed.Majority of muscle fibers showed normal diameter and architecture, unchanged, laying undersarcolemma nuclei were seen.Electron microscopy revealed numerous fat droplets within the muscle fibers.Abnormal mitochondria with crystalline inclusions were observed.A defect of mitochondrial enzymes was suspected. Biochemical evaluation of carnitinepalmitoyltransferase in the muscle tissue was performed and the result was 1,5 nM\/mgB\/min. \(Norm6,5\-18 nM\/mgB\/min.\).Microscopic image of the biopsy and reduced carnitine palmitoyltransferase suggest metabolicmyopathy CPT deficiency type."]

Wyników: 1