Title:

Files for neuromuscular diseases (2014) - nr 45/14

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:

2014

Description:

Muscle segment examination in light & electron microscopy

Subject and Keywords:

Glycogenosis type Pompe

Abstract:

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.).

Resource type:

Text

Detailed Resource Type:

Photography ; Files

Format:

pdf

Language:

pol

Language of abstract:

eng

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