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Author Duval G |
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Tosch V ; Vasli N ; Kretz C ; Nicot AS ; Gasnier C ; Dondaine N ; Oriot D ; Barth M ; Puissant H ; Romero NB ; Bonnemann CG ; Heller B ; Duval G ; Biancalana V ; Laporte J | 2010Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Buj Bello A ; Pierson CR ; Monroy-Munoz N ; Hindelang C ; Kretz C ; Duval G ; Pellissier JF ; Butler-Browne GS ; Beggs AH ; Laporte J ; Mandel JL | 2005Communication n° 299. Myotubularin is a phosphoinositide phosphatase with an essential function in skeletal muscle. It is encoded by the MTM1 gene which, when mutated, leads to X-linked myotubular myopathy in humans and a progressive centronucle[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; Buj Bello A ; Toesch V ; Tomczak KK ; Nicot AN ; Kretz J ; Duval G ; Beggs AH ; Laporte J ; Mandel JL | 2005Communication n° 289. X-linked myotubular myopathy (XLMTM) is a severe congenital muscular disease characterized by generalized hypotonia and respiratory insufficiency at birth. The mutated gene, MTM1, is composed of 15 exons and encodes a prote[...]