Abstract
Congenital muscular dystrophies (CMDs) and congenital myopathies (CMs) are a group of genetically and clinically heterogeneous degenerative primary muscle disorders with onset at birth or during infancy. The aim of this study was to genetically diagnose a cohort of 36 difficult-to-diagnose CMD and CM cases of Indian origin using next-generation sequencing methods. Furthermore, functional characterization of the novel pathogenic stop-gain variant NM_001927.4:c.448C>T in the DES gene identified in one patient of our cohort was done in order to understand their pathological role in disease phenotypes.
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