Title:

Files for neuromuscular diseases (2012) - nr 14/12

Creator:

Fidziańska-Dolot, Anna (1930–2015)

Contributor:

Mossakowski Medical Research Center Polish Academy of Sciences. Department of Neuromuscular

Place of publishing:

Warsaw

Date issued/created:

2012

Description:

Muscle segment examination in light microscopy

Subject and Keywords:

Carnitine palmitoyltransferase - deficiency ; Quadriceps sinister

Abstract:

Summary A 44-year-old patient with suspected carnitine palmitoyltransferase deficiency was examined. A biopsy of quadriceps sinister was performed. Electronmicroscopy analysis revealed normal ultrastructure of fibers and nuclei. Significant changes were observed within some mitochondria. Theywere characterized by blurred cristae or were devoid of mitochondrial cristae. Small homogeneous inclusions were present inside the mitochondria. Fat droplets were seen (Fig. 1,2,3). A defect of mitochondrial enzymes was suspected. Biochemical examination of carnitine palmitoyltransferase in the muscle tissue was performed and the result was 2,0nM/mgB/min. (Norm 6,5-18 nM/mgB/min.).

Resource type:

Text

Detailed Resource Type:

Photography ; Files

Format:

pdf

Language:

pol

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

Projects co-financed by:

Operational Program Digital Poland, 2014-2020, Measure 2.3: Digital accessibility and usefulness of public sector information; funds from the European Regional Development Fund and national co-financing from the state budget.

Access:

Open