RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.

ABSTRACT: The skeletal muscle ryanodine receptor (RyR1), i.e., the Ca²⁺ channel of the sarco/endoplasmic reticulum (S/ER), and the voltage-dependent calcium channel Cav1.1 are the principal channels involved in excitation-contraction coupling in skeletal muscle. RYR1 gene variants are linked to distinct skeletal muscle disorders, including malignant hyperthermia susceptibility and central core disease (CCD), mainly with autosomal dominant inheritance, and autosomal recessive myopathies with a broad phenotypic and histopathological spectrum. The age at onset of RYR1-related myopathies varies from infancy to adulthood. We report the identification of four RYR1 variants in two Italian families: one with myopathy and variants c.4003C>T (p.R1335C) and c.7035C>A (p.S2345R),

SUBMITTER: Zullo A 

PROVIDER: S-EPMC6500691 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature