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Mutations in TPM3 are a common cause of congenital fiber type disproportion.
- Published in:
- Annals of Neurology, 2008, v. 63, n. 3, p. 329, doi. 10.1002/ana.21308
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- Article
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 10, p. 1171, doi. 10.1093/hmg/ddg121
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- Publication type:
- Article