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Recessive myopalladin mutations cause congenital cap myopathy with unusual rods

Archive ouverte | Malfatti, E. | CCSD

International audience. To identify the causative gene in three patients presenting progressive congenital myopathy and cap structures in skeletal muscle. Cap myopathy is a rare congenital myopathy characterized by ...

Integrated analysis of the large-scale sequencing project ``Myocapture'' to identify novel genes for myopathies

Archive ouverte | Bohm, J. | CCSD

22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE, OCT 03-07, 2017. International audience

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Archive ouverte | Mercier, S. | CCSD

International audience

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