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2003 | 1 |
2005 | 1 |
2024 | 0 |
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Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
Neurology. 2005 Dec 27;65(12):1930-5. doi: 10.1212/01.wnl.0000188870.37076.f2.
Neurology. 2005.
PMID: 16380615
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, Lunardi J.
Monnier N, et al.
Hum Mol Genet. 2003 May 15;12(10):1171-8. doi: 10.1093/hmg/ddg121.
Hum Mol Genet. 2003.
PMID: 12719381
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