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Article

Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine.

European journal of medical genetics - 1 Mar 2023

Lester Emilie Boye, Larsen Martin Jakob, Laulund Lone Walentin, Illum Niels, Dunkhase-Heinl Ulrike, Schrøder Henrik Daa, Fagerberg Christina Ringmann

Abstract excerpt

Disease causing variants in the Ryanodine receptor 1 (RYR1) gene are a common cause for congenital myopathy and for malignant hyperthermia susceptibility. We report a 17 year old boy with congenital muscle weakness progressing to a myasthenia like myopathy with muscle weakness, fatigability, ptosis, and ophthalmoplegia. Muscle biopsy showed predominance and atrophy of type 1 fibers. Whole-exome trio sequencing...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 36669590
DOI: 10.1016/j.ejmg.2023.104706

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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