Ryanodine receptor 1 ( <i>RYR1</i> ) mutations in two patients with tubular aggregate myopathy-Reference-Cited by-同舟云学术

Ryanodine receptor 1 ( RYR1 ) mutations in two patients with tubular aggregate myopathy

Published:2022-06-13 Issue:3 Volume:56 Page:4214-4223
ISSN:0953-816X
Container-title:European Journal of Neuroscience
language:en
Short-container-title:Eur J of Neuroscience

Author:

Vattemi Gaetano Nicola Alfio¹,Rossi Daniela²³,Galli Lucia³,Catallo Maria Rosaria²,Pancheri Elia¹,Marchetto Giulia¹,Cisterna Barbara⁴,Malatesta Manuela⁴,Pierantozzi Enrico²,Tonin Paola⁴,Sorrentino Vincenzo²³^ORCID

Affiliation:

1. Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology University of Verona Verona Italy

2. Department of Molecular and Developmental Medicine, Molecular Medicine Section University of Siena Siena Italy

3. Interdepartmental Program of Molecular Diagnosis and Pathogenetic Mechanisms of Rare Genetic Diseases Azienda Ospedaliero Universitaria Senese Siena Italy

4. Department of Neurosciences, Biomedicine and Movement Sciences, Section of Anatomy and Histology University of Verona Verona Italy

Funder

Fondazione Telethon

Publisher

Wiley

Subject

General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ejn.15728

Reference57 articles.

1. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

2. Genotype-phenotype correlations in recessive RYR1-related myopathies