Neurol. praxi. 2021;22(2):100-103 | DOI: 10.36290/neu.2020.107
Limb-girdle muscular dystrophies
- Centrum molekulární biologie a genové terapie, Fakultní nemocnice Brno
Limb-Girdle Muscular Dystrophies (LGMD) are a clinically and genetically heterogeneous group of diseases. To date, 29 genes associated with LGMD have been identified that divide LGMD into 29 subtypes. About 10 % of LGMD have a dominant type of inheritance, 90 % of LGMD have a recessive type of inheritance. The individual LGMD subtypes do not share a common pathophysiological mechanism of the disease that would distinguish them from other forms of muscular dystrophies. On the contrary, LGMD are associated with genes whose protein products have different functions and cellular localizations. Due to the number of associated genes, molecular genetic diagnosis of LGMD is a relatively complicated process, which is currently based on Next-Generation Sequencing (NGS) techniques both at the panel level of selected genes and at the whole exom level.
Keywords: neuromuscular diseases, lim-girdle muscular dystrophies, LGMD, NGS.
Received: October 2, 2020; Revised: October 23, 2020; Accepted: October 27, 2020; Prepublished online: October 27, 2020; Published: April 30, 2021 Show citation
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