Object

Indentyfikacja i kompleksowa charakterystyka podłoża genetycznego rzadkich miopatii i dystrofii mięśniowych w populacji polskiej
This publication is protected by copyright. Check the terms of use in the publication description.
This publication is protected by copyright. Check the terms of use in the publication description.

Title: Indentyfikacja i kompleksowa charakterystyka podłoża genetycznego rzadkich miopatii i dystrofii mięśniowych w populacji polskiej

Creator:

Fichna, Jakub P.

Date issued/created:

2017

Resource Type:

PhD Dissertations

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:

doktor

Level of degree:

2

Degree grantor:

Instytut Medycyny Doświadczalnej i Klinicznej im. M. Mossakowskiego PAN

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

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:

Licencja Creative Commons Uznanie autorstwa-Użycie niekomercyjne 4.0

Terms of use:

-

Digitizing institution:

Mossakowski Medical Research Center PAS

Original in:

Library of the Mossakowski Medical Research Center PAS

Projects co-financed by:

Program Operacyjny Polska Cyfrowa, lata 2014-2020, Działanie 2.3 : Cyfrowa dostępność i użyteczność sektora publicznego; środki z Europejskiego Funduszu Rozwoju Regionalnego oraz współfinansowania krajowego z budżetu państwa

Object collections:

Last modified:

May 27, 2020

In our library since:

Feb 6, 2019

Number of object content hits:

4

All available object's versions:

https://www.rcin.org.pl/publication/89399

Show description in RDF format:

RDF

Show description in OAI-PMH format:

OAI-PMH

Objects

Similar
×

Citation

Citation style:

This page uses 'cookies'. More information