Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing-Reference-Cited by-同舟云学术

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

Published:2012-03-09 Issue:4 Volume:158A Page:772-778
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kondo Eri,Nishimura Takafumi,Kosho Tomoki,Inaba Yuji,Mitsuhashi Satomi,Ishida Takefumi,Baba Atsushi,Koike Kenichi,Nishino Ichizo,Nonaka Ikuya,Furukawa Toru,Saito Kayoko

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference25 articles.

1. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations;Agrawal;Ann Neurol,2004

2. A RYR1 muation associated with recessive congenital myopathy and dominant malignant hyperthermia in asian families;Carpenter;Muscle Nerve,2009

3. Annotation. Congenital fibre type disproportion-A syndrome at the crossroads of the congenital myopathies;Clarke;Neuromuscul Disord,2011

4. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion;Clarke;Hum Mutat,2010

5. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene;Ferreiro;Ann Neurol,2002

Cited by 34 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. A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands;Neuromuscular Disorders;2024-10

2. Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy;The American Journal of Pathology;2023-10

3. Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies;Journal of General Physiology;2022-08-18

4. Respiratory muscle function in patients with nemaline myopathy;Neuromuscular Disorders;2022-08

5. Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data;Journal of Child Neurology;2022-06