Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.

Autor: Abdel Aleem, Alice^1,2 (AUTHOR) aka2005@qatar-med.cornell.edu, Elsaid, Mahmoud F.^1,3 (AUTHOR), Chalhoub, Nader^1,2 (AUTHOR), Chakroun, Almahdi^1,2 (AUTHOR), Mohamed, Khalid A.S.³ (AUTHOR), AlShami, Rana³ (AUTHOR), Kuzu, Omer² (AUTHOR), Mohamed, Reem B.⁴ (AUTHOR), Ibrahim, Khalid³ (AUTHOR), AlMudheki, Noora⁵ (AUTHOR), Osman, Omar⁶ (AUTHOR), Ross, M. Elizabeth² (AUTHOR), ELalamy, Osama⁷ (AUTHOR)

Publikováno v: Neuromuscular Disorders. Jun2020, Vol. 30 Issue 6, p457-471. 15p.