Ontology highlight
ABSTRACT:
SUBMITTER: Stehlikova K
PROVIDER: S-EPMC4145250 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Stehlíková Kristýna K Skálová Daniela D Zídková Jana J Mrázová Lenka L Vondráček Petr P Mazanec Radim R Voháňka Stanislav S Haberlová Jana J Hermanová Markéta M Zámečník Josef J Souček Ondřej O Ošlejšková Hana H Dvořáčková Nina N Solařová Pavla P Fajkusová Lenka L
BMC neurology 20140819
<h4>Background</h4>Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting of the shoulder and pelvic girdle muscles. In this study, we determined the frequency of LGMD subtypes within a cohort of Czech LGMD2 patients using mutational analysis of the CAPN3, FKRP, SGCA, and ANO5 genes.<h4>Methods</h4>PCR-sequencing analysis; sequence capture and targeted resequencing.<h4>Results</h4>Mutati ...[more]