Article

Identification of a novel compound heterozygous mutation in RyR1 gene in an Indian family affected with congenital myopathy

2024-06-26

Abstract excerpt

Within the ryanodine receptor family (RyR), three genes (RyR1, RyR2, and RyR3) are involved in Ca2+ homeostasis, storage, and regulation. Mutations in RyR1 causes a wide range of clinical phenotypes, including several congenital myopathies (CM), central core disease (CCD), and hyperthermia susceptibility. RyR1-related CCDs usually show clinical heterogeneity and an early onset of disease pathogenesis. Here, we pre...

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Literature Corpus work: dc87963c-9ee6-597a-a4cd-c2450f34df63
DOI: 10.22541/au.171942438.86570500/v1

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