A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia
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| Description | scientific article published on May 15, 2003 |
| Author/s |
author: Isabelle Marty |
| Publication date | May 1, 2003 |
| Language | English |
| Country of origin | |
| Wikipedia link | |
| Access work |
https://academic.oup.com/hmg/article-pdf/12/10/1171/1800546/ddg121.pdf |
| Copyright status | |
| Missing/wrong data? | Edit Wikidata item |