Article
Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.
Annals of neurology - 1 Apr 2014
Sangaré Modibo, Hendrickson Brant, Sango Hammadoun Ali, Chen Kelian, Nofziger Jonathan, Amara Abdelbasset, Dutra Amalia, Schindler Alice B, Guindo Aldiouma, Traoré Mahamadou, Harmison George, Pak Evgenia, Yaro Fatoumata N'Go, Bricceno Katherine, Grunseich Christopher, Chen Guibin, Boehm Manfred, Zukosky Kristen, Bocoum Nouhoum, Meilleur Katherine G, Daou Fatoumata, Bagayogo Koumba, Coulibaly Yaya Ibrahim, Diakité Mahamadou, Fay Michael P, Lee Hee-Suk, Saad Ali, Gribaa Moez, Singleton Andrew B, Maiga Youssoufa, Auh Sungyoung, Landouré Guida, Fairhurst Rick M, Burnett Barrington G, Scholl Thomas, Fischbeck Kenneth H
Abstract excerpt
OBJECTIVE: Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually caused by deletions of the survival motor neuron 1 (SMN1) gene. A closely related gene, SMN2, modifies the disease severity. SMA carriers have only 1 copy of SMN1 and are relatively common (1 in 30-50) in populations of European and Asian...
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