Abstract
Monogenic Neuromuscular disorders (NMDs) are clinically and genetically heterogeneous group of disorders with about 500 associated genes. NMDs may be inherited in autosomal recessive, autosomal dominant and X-linked fashion. In the context of highly consanguineous Pakistani population, we expect the autosomal recessive NMDs to have a higher prevalence, compared to that seen in the populations with European ancestry. However, we do not have contextual ethno-specific genomics data for NMDs in Pakistani population.
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