Article
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.
Neurogenetics - 1 Oct 2010
Boyden Steven E, Salih Mustafa A, Duncan Anna R, White Alexander J, Estrella Elicia A, Burgess Stephanie L, Seidahmed Mohammed Z, Al-Jarallah Abdullah S, Alkhalidi Hisham M S, Al-Maneea Waleed M, Bennett Richard R, Alshemmari Salem H, Kunkel Louis M, Kang Peter B
Abstract excerpt
Limb girdle muscular dystrophy type 2 (LGMD2) is a genetically heterogeneous autosomal recessive disorder caused by mutations in 15 known genes. DNA sequencing of all candidate genes can be expensive and laborious, whereas a selective sequencing approach often fails to provide a molecular diagnos...
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