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Files for neuromuscular diseases (2010) - nr 9/10
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:Limb-girdle muscular dystrophy
Abstract:A 26-year-old patient with suspected limb-girdle muscular dystrophy was examined. A biopsy ofquadriceps was performed.Muscle fibers showed normal structure and architecture but electronmicroscopy analysisrevealed significant changes in mitochondria - they were characterized by bright mitochondrialmatrix and were partially or even totally devoid of mitochondrial cristae. Fat droplets were observedwithin the muscle fibers.A defect of mitochondrial enzymes was suspected. Biochemical evaluation of carnitinepalmitoyltransferase in the muscle tissue is advisable.
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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