Abstract：
Limb girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of muscular dystrophies. The study presents an overview of molecular characteristics of a large cohort of LGMD patients who are representative of the Czech LGMD population. We present 226 LGMD probands in which 433 mutant alleles carrying 157 different variants with a supposed pathogenic effect were identified. Fifty-four variants have been described only in the Czech LGMD population so far. LGMD R1 caplain3-related is the most frequent subtype of LGMD involving 53.1% of patients with genetically confirmed LGMD, followed by LGMD R9 FKRP-related (11.1%), and LGMD R12 anoctamin5-related (7.1%). If we consider identified variants, then all but five were small-scale variants. One large gene deletion was identified in the LAMA2 gene and two deletions in each of CAPN3 and SGCG. We performed comparison our result with other published studies. The results obtained in the Czech LGMD population clearly differ from the outcome of other LGMD populations in two aspects-we have a more significant proportion of patients with LGMD R1 calpain3-related and a smaller proportion of LGMD R2 dysferlin-related.
摘要：
肢带肌营养不良（LGMD）是一组遗传异质性的肌营养不良。该研究概述了代表捷克LGMD人群的大量LGMD患者的分子特征。我们提供了226个LGMD先证者，其中鉴定出433个突变等位基因，这些等位基因携带157个具有假定的致病作用的不同变体。到目前为止，仅在捷克LGMD人群中描述了54种变体。LGMDR1caplain3相关是LGMD最常见的亚型，涉及53.1%的基因确诊LGMD患者，其次是LGMDR9FKRP相关（11.1％），LGMDR12与八胺5相关（7.1%）。如果我们考虑识别的变体，除了5个都是小规模的变种.在LAMA2基因中鉴定出一个大的基因缺失,并且在CAPN3和SGCG的每一个中鉴定出两个缺失。我们将我们的结果与其他已发表的研究进行了比较。在捷克LGMD人群中获得的结果在两个方面与其他LGMD人群的结果明显不同-我们在LGMDR1钙肽3相关的患者中比例更高，而LGMDR2dyferlin相关的患者比例更小。
