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Article

A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.

American journal of medical genetics. Part A - 1 Jun 2023

Baker Elizabeth K, Al Gharaibeh Faris N, Bove Kevin, Calvo-Garcia Maria A, Shillington Amelle, VandenHeuvel Katherine, Cortezzo DonnaMaria E

Abstract excerpt

Ryanodine receptor type 1-related disorder (RYR1-RD) is the most common subgroup of congenital myopathies with a wide phenotypic spectrum ranging from mild hypotonia to lethal fetal akinesia. Genetic testing for myopathies is imperative as the diagnosis informs counseling regarding prognosis and recurrence risk, treatment options, monitoring, and clinical management. However, diagnostic challenges exist as...

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Identifiers

PMID: 36965156
DOI: 10.1002/ajmg.a.63188

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