A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia-Reference-Cited by-同舟云学术

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A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

Published:2003-05-15 Issue:10 Volume:12 Page:1171-1178
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:
Short-container-title:

Author:

Monnier N.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/12/10/1171/1800546/ddg121.pdf

Cited by 123 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

2. Correlation of Phenotype–Genotype and Protein Structure in RYR1-Related Myopathy;Frontiers in Neurology;2022-05-26

3. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing;Frontiers in Genetics;2022-01-24

4. Golgi Metal Ion Homeostasis in Human Health and Diseases;Cells;2022-01-15

5. A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course;Acta Neuropathologica Communications;2021-09-17

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