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Article

Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases.

Journal of neuromuscular diseases - 1 Jan 2023

Lake Nicole J, Phua Joel, Liu Wei, Moors Tristen, Axon Steven, Lek Monkol

Abstract excerpt

BACKGROUND: Recessive pathogenic variants in LAMA2 resulting in complete or partial loss of laminin α2 protein cause congenital muscular dystrophy (LAMA2 CMD). The prevalence of LAMA2 CMD has been estimated by epidemiological studies to lie between 1.36-20 cases per million. However, prevalence estimates from epidemiological studies are vulnerable to inaccuracies owing to challenges with studying rare diseases....

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PMID: 37005889
DOI: 10.3233/JND-221552

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