@misc{,
 copyright={Creative Commons Attribution BY 4.0 license},
 address={Warszawa},
 howpublished={online},
 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.},
 type={Text},
 URL={http://rcin.org.pl/Content/68251/PDF/Fichna_rozprawa_l.pdf},
}