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Your search keyword '"Birouk, Nezha"' showing total 9 results
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9 results on '"Birouk, Nezha"'

2. Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNAPathogenic Variant

Author

Rahmuni, Yasmina, El Kadiri, Youssef, Lyahyai, Jaber, Birouk, Nezha, Nesnassi, Mounir, Sefiani, Abdelaziz, and Ratbi, Ilham

Abstract

Background:Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disorder characterized by muscle weakness and atrophy associated with early tendon retractions and late cardiomyopathy. Among several genes, EMDand LMNAare the major ones (55%). Due to intra- and inter-familial heterogeneity, only NGS allows to confirm with certainty EDMD by identifying the mutation in the causal gene. Case Presentation:We report clinical and molecular data of two unrelated Moroccan patients with EDMD in whom we identified a deleterious hemizygous splicing variant NM_000117.3(EMD): c.399 + 1G>T and a novel frameshift variant NM_170707.4(LMNA): c.1549_1550delCA, respectively. Carrier status of the EMDvariant was investigated in several relatives at risk. Conclusion:We emphasize the importance of NGS as a powerful genetic tool in EDMD for accurate molecular diagnosis, effective clinical management of patients, and appropriate genetic counseling of families.

Published
2024
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5. Myokymia revealing multiple sclerosis

Author

Tibar, Houyam, primary, Ait Benhaddou, Elhachmia, additional, Regragui, Wafa, additional, Benomar, Ali, additional, Yahyaoui, Mohamed, additional, Birouk, Nezha, additional, and Jiddane, Mohamed, additional

Published
2016
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8. Vitamin E deficiency ataxia associated with adenoma

Author

Benomar, Ali, primary, Yahyaoui, Mohammed, additional, Marzouki, Naima, additional, Birouk, Nezha, additional, Bouslam, Naima, additional, Belaidi, Halima, additional, Amarti, Afaf, additional, Ouazzani, Reda, additional, and Chkili, Taieb, additional

Published
1999
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9. [Cardiac involvement in Steinert myotonic dystrophy: Moroccan experience, about 18 cases].

Author

Saghi G, Bouhouch R, Salaheddine L, Birouk N, Nadifi S, Fellat I, and Cherti M

Subjects
Adolescent, Adult, Aged, Arrhythmias, Cardiac diagnosis, Arrhythmias, Cardiac epidemiology, Arrhythmias, Cardiac etiology, Cardiomyopathies diagnosis, Cardiomyopathies epidemiology, Cardiomyopathies etiology, Diagnostic Techniques, Cardiovascular, Disease Progression, Dyspnea etiology, Electrocardiography, Ambulatory, Fatigue etiology, Female, Heart Diseases diagnosis, Heart Diseases epidemiology, Humans, Male, Middle Aged, Mitral Valve Prolapse diagnosis, Mitral Valve Prolapse epidemiology, Mitral Valve Prolapse etiology, Morocco epidemiology, Myotonic Dystrophy epidemiology, Pacemaker, Artificial, Young Adult, Heart Diseases etiology, Myotonic Dystrophy complications
Published
2015
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