Fhl1 mutations associated with novel x-linked muscular...

C - Chemistry – Metallurgy – 07 – K

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C07K 14/47 (2006.01) C07K 7/08 (2006.01) C07K 14/705 (2006.01) C07K 16/18 (2006.01) C12N 15/12 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01)

Patent

CA 2688678

Four and a HaIf LIM domains protein 1 (FHL-1) mutations at positions 128 or 224 that are associated with X-linked muscular myopathy, methods of screening subjects to identify those susceptible to muscular myopathy including muscular dystrophy and cardiomyopathy and kits.

L'invention concerne les mutations de la protéine 1 à quatre domaines LIM et demi (FHL-1) aux positions 128 ou 224 qui sont associées à une myopathie musculaire liée au chromosome X, des procédés de dépistage des sujets pour identifier ceux qui sont prédisposés à une myopathie musculaire incluant la dystrophie musculaire et la cardiomyopathie, et des kits.

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