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Journal articles

A novel large deletion in CCM1 gene in a Tunisian family

Abstract : Familial CCM is a rare entity associated with the mutation of three genes: CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10). We report here the first description of a Tunisian familial CCMs composed of six members. The father and two daughters were affected and symptomatic. The two other kindred were healthy. Surgical treatment was performed in only one affected patient. Molecular analysis of KRIT1, MGC4607 and PDCD10 genes identified a large KRIT1 deletion of the first ten exons. To the best of our knowledge, this large deletion has never been reported before.
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Contributor : AbdelHakim Ben Hassine Connect in order to contact the contributor
Submitted on : Friday, December 7, 2018 - 12:08:16 PM
Last modification on : Wednesday, October 28, 2020 - 9:52:05 AM




F. Tinsa, I. Bel Hadj, F. Riant, M. Ben Romdhane, I. Brini, et al.. A novel large deletion in CCM1 gene in a Tunisian family. Revue Neurologique, Elsevier Masson, 2019, 175 (3), pp.194-197. ⟨10.1016/j.neurol.2018.04.013⟩. ⟨pasteur-01947926⟩



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