Parental mosaicism in RYR1 -related Central Core Disease-Reference-Cited by-同舟云学术

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Parental mosaicism in RYR1 -related Central Core Disease

Published:2018-05 Issue:5 Volume:28 Page:422-426
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Marks S.,van Ruitenbeek E.,Fallon P.,Johns P.,Phadke R.,Mein R.,Mohammed S.,Jungbluth H.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference26 articles.

1. Malignant hyperthermia;Rosenberg;Orphanet J Rare Dis,2007

2. Evidence for genetic heterogeneity in malignant hyperthermia susceptibility;Levitt;Genomics,1991

3. Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene;Zhou;Neuromuscul Disord,2010

4. A mutation in the human ryanodine receptor gene associated with central core disease;Zhang;Nat Genet,1993

5. Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies;Klein;Hum Mutat,2012

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy;Journal of Neuromuscular Diseases;2024-04-30

2. Neuromuscular disorders: finding the missing genetic diagnoses;Trends in Genetics;2022-09

3. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies;Journal of Clinical Medicine;2022-05-12

4. Asymmetric muscle weakness due to ACTA1 mosaic mutations;Neurology;2020-09-28

5. Correlation of phenotype with genotype and protein structure in RYR1-related disorders;Journal of Neurology;2018-08-28

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