Mossakowski Medical Research Center Polish Academy of Sciences. Department of Neuromuscular
Muscle segment examination in light & electron microscopy
An 13-year-old patient with suspected Pompe type glycogenosis was examined. A biopsy ofquadriceps dexter was performed.Electronmicroscopy analysis revealed normal structure and size of some muscle fibers formingcompact bunches separated by connective tissue (Fig. 1). We observed altered structure and shapeof mitochondria (Fig. 2), they were often characterized by light mitochondrial matrix and weredevoid ofmitochondrial cristae (Fig 3,4).A defect of mitochondrial enzymes was suspected. Biochemical examination of carnitinepalmitoyltransferase was performed and the result was 2,08 nM/mgB/min. (Norm 6,5-18 08nM/mgB/min.).
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Mossakowski Medical Research Institute PAS
Library of the Mossakowski Medical Research Institute PAS
1 lut 2022
29 sty 2020
41
https://rcin.org.pl/publication/138718
Nazwa wydania | Data |
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opis nr 45/14 | 1 lut 2022 |
Fidziańska-Dolot, Anna (1930–2015)
Fidziańska-Dolot, Anna (1930–2015)
Fidziańska-Dolot, Anna (1930–2015)
Fidziańska-Dolot, Anna (1930–2015)
Fidziańska-Dolot, Anna (1930–2015)
Fidziańska-Dolot, Anna (1930–2015)