Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients’ cohort from Qatar. A population specific founder variant
Alice Abdel Aleem, Mahmoud F. Elsaid, Nader Chalhoub, Almahdi Chakroun, Khalid Mohamed, Rana Al-Shami, Omer F. Kuzu, Reem Mohamed, Khalid Ibrahim, Noora AlMudheki, Omar Osman, M. Elizabeth Ross, Osama Elalamy
Topics & Concepts
Frameshift mutationFounder effectMedicineCongenital muscular dystrophyCohortHypotoniaGeneticsPopulationConsanguinityPediatricsMutationMuscular dystrophyInternal medicineBiologyGeneAlleleHaplotypeEnvironmental healthMuscle Physiology and DisordersCell Adhesion Molecules ResearchCardiomyopathy and Myosin Studies