A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

ABSTRACT: The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca²⁺ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca²⁺-dependent muscle contraction. Abnormal RyR1 activity compromises normal muscle function and results in various human disorders including malignant hyperthermia, central core disease, and centronuclear myopathy. However, RYR1 is one of the largest genes of the human genome and accumulates numerous missense variants of uncertain significance (VUS), precluding an efficient molecular diagnosis for many patients and families. Here we describe a recurrent RYR1 mutation previously classified as VUS, and we provide clinical, histological, and genetic data supporting its pathogenicity. The heterozygous c.12083C>T (

SUBMITTER: Biancalana V 

PROVIDER: S-EPMC8447513 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature