DOI:
10.1055/s-00034916
Nervenheilkunde
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References
Monnier N. et al.
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.
Hum Mol Genet 2003;
12: 1171-8.
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