Novel Homozygous Pathogenic Mutations of LAMA 2 Gene in Patients with Congen ital Muscular Dystrophy

The laminin α2 subunit is a protein encoded by the laminin α2 gene(LAMA2) which has the role of adhesion (attachment of cells to one another). Genetics consideration showed that mutation in LAMA2 caused a collection of muscle-wasting conditions called muscular dystrophy. This disorder causes disconn...

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Detalles Bibliográficos
Autores principales: KHODAENIA, Negar, FARJAMI, Zahra, ASHNAEI, Amir Hosein, EBRAHIMI, Neshat, CHELVARFOROOSH, Navid, URTIZBEREA, Andoni, RAZMARA, Ehsan, HOUSHMAND, Massoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7856435/
https://www.ncbi.nlm.nih.gov/pubmed/33558818
http://dx.doi.org/10.22037/ijcn.v15i1.21649

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