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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Detalles Bibliográficos
Autores principales: Katz, Matthew, Waddell, Leigh B., Yuen, Michaela, Bryen, Samantha J., Oates, Emily, Garton, Fleur C., Robertson, Thomas, Henderson, Robert David, Cooper, Sandra T., McCombe, Pamela A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911805/
https://www.ncbi.nlm.nih.gov/pubmed/36779065
http://dx.doi.org/10.3389/fneur.2023.1055639

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