Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion-Reference-Cited by-同舟云学术

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Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

Published:2010-05-11 Issue:7 Volume:31 Page:E1544-E1550
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Clarke Nigel F.,Waddell Leigh B.,Cooper Sandra T.,Perry Margaret,Smith Robert L.L.,Kornberg Andrew J.,Muntoni Francesco,Lillis Suzanne,Straub Volker,Bushby Kate,Guglieri Michela,King Mary D.,Farrell Michael A.,Marty Isabelle,Lunardi Joel,Monnier Nicole,North Kathryn N.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21278/fullpdf

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1. Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy;Global Medical Genetics;2024-09-05

2. Tracking updates in clinical databases increases efficiency for variant reanalysis;Genetics in Medicine Open;2024

3. Ryanodine receptor type 1 content decrease‐induced endoplasmic reticulum stress is a hallmark of myopathies;Journal of Cachexia, Sarcopenia and Muscle;2023-11-15

4. One case of congenital myopathy caused by new mutation of RYR1 gene and literature review;Gene;2023-08

5. RyR1 protein content is reduced in inflammatory and mitochondrial myopathies and induces ER stress;2023-02-03

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