Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant

Recessive pathogenic variants in the laminin subunit alpha 2 (LAMA2) gene cause a spectrum of disease ranging from severe congenital muscular dystrophy to later-onset limb girdle muscular dystrophy (LGMDR23). The phenotype of LGMDR23 is characterized by slowly progressive proximal limb weakness, con...

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Bibliografiske detaljer

Principais autores:	Matthew Katz, Leigh B. Waddell, Michaela Yuen, Samantha J. Bryen, Emily Oates, Fleur C. Garton, Thomas Robertson, Robert David Henderson, Sandra T. Cooper, Pamela A. McCombe
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2023-01-01
Serier:	Frontiers in Neurology
Fag:	limb girdle muscular dystrophy genotype phenotype LAMA2 whole exome sequencing
Online adgang:	https://www.frontiersin.org/articles/10.3389/fneur.2023.1055639/full
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