Metadata language
Files for neuromuscular diseases (2010) - nr 32/10
Creator:Fidziańska-Dolot, Anna (1930–2015)
Contributor:Mossakowski Medical Research Center Polish Academy of Sciences. Department of Neuromuscular
Place of publishing: Date issued/created: Description:Muscle segment examination in light & electron microscopy
Subject and Keywords: Abstract: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.
Resource type: Detailed Resource Type: Format: Language: Rights:Creative Commons Attribution BY 4.0 license
Terms of use:Copyright-protected material. [CC BY 4.0] May be used within the scope specified in Creative Commons Attribution BY 4.0 license, full text available at: ; -
Digitizing institution:Mossakowski Medical Research Institute PAS
Original in:Library of the Mossakowski Medical Research Institute PAS
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