TY - JOUR AU - Fichna, Jakub Piotr AU - Macias, Anna AU - Piechota, Marcin AU - Korostyński, Michał AU - Potulska-Chromik, Anna AU - Redowicz, Maria Jolanta AU - Zekanowski, Cezary PY - 2018 DA - 2018/07/03 TI - Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients JO - Human Genomics SP - 34 VL - 12 IS - 1 AB - Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background, and around 50% cases lacking molecular diagnosis. SN - 1479-7364 UR - https://doi.org/10.1186/s40246-018-0167-1 DO - 10.1186/s40246-018-0167-1 ID - Fichna2018 ER -