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

By Monnier Nicole  

Human Molecular Genetics, Vol. 12, Iss. 10, 2003-05 ,pp. : 1171-1178

Oxford University Press

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Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A

By Tagawa Kazuhiko  

Human Molecular Genetics, Vol. 9, Iss. 9, 2000-05 ,pp. : 1393-1402

Oxford University Press

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Skeletal muscle repair in a mouse model of nemaline myopathy

By Sanoudou Despina   Corbett Mark A.   Han Mei   Ghoddusi Majid   Nguyen Mai-Anh T.   Vlahovich Nicole   Hardeman Edna C.  

Human Molecular Genetics, Vol. 15, Iss. 17, 2006-09 ,pp. : 2603-2612

Oxford University Press

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A novel PtdIns3P and PtdIns(3,5)P 2 phosphatase with an inactivating variant in centronuclear myopathy

By Tosch Valérie   Rohde Holger M.   Zanoteli Edmar   Monroy Nancy   Kretz Christine   Dondaine Nicolas   Payrastre Bernard   Mandel Jean-Louis   Laporte Jocelyn  

Human Molecular Genetics, Vol. 15, Iss. 21, 2006-11 ,pp. : 3098-3106

Oxford University Press

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Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy

By Sasarman F.   Karpati G.   Shoubridge E.A.  

Human Molecular Genetics, Vol. 11, Iss. 14, 2002-07 ,pp. : 1669-1681

Oxford University Press

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