Contributor:

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

Place of publishing:

Warsaw

Description:

Muscle segment examination in light & electron microscopy

Abstract:

An infant with congenital myopathy was examined. A biopsy of quadriceps was performed.In the whole biopsy numerous immature fibres of small diameter, in the type of primary myotubewere observed. Cells of mature myotube morphology were also seen. Nemaline bodies of varyingsize and density were visible in many of myotubes .Electronmicroscopy analysis revealed also single mature muscle fibers. In them numerous nemalinebodies were also observed.Conclusions: Nemaline myopathy with suspected ACTA-1 genetic defect. Genetic testing andconsultation at genetic outpatient clinic is recommended.

Detailed Resource Type:

Photography ; Files

Format:

pdf

Resource Identifier:

oai:rcin.org.pl:128372

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