Contributor:

Żekanowski, Cezary (Promotor)

Publisher:

Instytut Medycyny Doświadczalnej i Klinicznej im. M. Mossakowskiego PAN

Place of publishing:

Warszawa

Description:

Bibliogr. zawiera 161 pozycji ; 74 s.: wykr., tabl.; 30 cm

Degree name:

doctor

Level of degree:

2

Degree grantor:

Instytut Medycyny Doświadczalnej i Klinicznej im. M. Mossakowskiego PAN

Type of object:

Thesis

Abstract:

The dissertation describes identification and initial evaluation of genetic variants that could cause and influence the course of the disease in cases of limb girdle muscular dystrophy (LGMD), myofibrillar myopathy (MFM) and simmilar phenotypes in the Polish population. A reasonably robust genetic diagnosis was possible in 63.5% of LGMD cases and 83% of MFM cases. The putative causal mutations were identified mostly in genes already associated with LGMD, but in some cases also in genes not included in the current LGMD classification. Moreover, in all patients a variety of phenotype-modifying variants were postulated in genes previously associated with various muscle diseases. Obtained data suggest that LGMD and MFM could be better described as a group of oligogenic or even polygenic disorders in which variable clinical presentation can result from combined effects of causal and phenotype-modyfing mutations in many genes.

Relation:

Prace doktorskie

Detailed Resource Type:

PhD Dissertations

Format:

application/pdf

Resource Identifier:

oai:rcin.org.pl:68251

Source:

IMDiK PAN, call no. ZS 380 ; click here to follow the link

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