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Article

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

Journal of molecular neuroscience : MN - 5 Oct 2024

Sharaf-Eldin Wessam E, Rafat Karima, Issa Mahmoud Y, Elbendary Hasnaa M, Eissa Noura R, Hawaary Bahaa, Gaboon Nagwa E A, Maroofian Reza, Gleeson Joseph G, Essawi Mona L, Zaki Maha S

Abstract excerpt

Collagen VI-related dystrophies (COL6-RD) display a wide spectrum of disease severity and genetic variability ranging from mild Bethlem myopathy (BM) to severe Ullrich congenital muscular dystrophy (UCMD) and the intermediate severities in between with dual modes of inheritance, dominant and recessive. In the current study, next-generation sequencing demonstrated potential variants in the genes coding for the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39367186
DOI: 10.1007/s12031-024-02266-8
PMCID: PMC11452470

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