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

17 Sept 2021

Abstract excerpt

-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...

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PMID: 34535181
DOI: 10.1186/s40478-021-01254-y

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