Wikidata

(Q44420417)

English

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

scientific article published on May 15, 2003

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title
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia (English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12719381
retrieved
2 December 2017

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