Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding-Reference-Cited by-同舟云学术

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Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding

Published:2018-01 Issue:1 Volume:28 Page:54-58
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Brackmann Florian,Türk Matthias,Gratzki Nils,Rompel Oliver,Jungbluth Heinz,Schröder Rolf,Trollmann Regina

Publisher

Elsevier BV

Subject

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

Reference35 articles.

1. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth;Todd;Orphanet J Rare Dis,2015

2. Congenital myopathies–clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom;Maggi;Neuromuscul Disord,2013

3. Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum;Bharucha-Goebel;Neurology,2013

4. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia;Romero;Brain,2003

5. Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum;Kariminejad;BMC Musculoskelet Disord,2016

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. RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022;Journal of Neuromuscular Diseases;2023-01-03

2. Malignant Hyperthermia: A Killer If Ignored;Journal of PeriAnesthesia Nursing;2022-08

3. Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d‐transposition of the great arteries;Molecular Genetics & Genomic Medicine;2021-09-16

4. Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies;Frontiers in Neurology;2021-06-28

5. Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy;Journal of Neuropathology & Experimental Neurology;2019-02-04

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