A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report

Mutations in DYNC1H1 have been shown to cause spinal muscular atrophy lower extremity predominant type 1 (SMALED1), an autosomal dominant genetic neuromuscular disorder characterized by degeneration of spinal cord motor neurons resulting in muscle weakness. Here, we describe monozygotic twins, one w...

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Detalles Bibliográficos
Autores principales: Derksen, Alexa, Mirchi, Amytice, Tran, Luan T., Cao-Lei, Lei, Oskoui, Maryam, Srour, Myriam, Poulin, Chantal, Bernard, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8312150/
https://www.ncbi.nlm.nih.gov/pubmed/34368388
http://dx.doi.org/10.1177/2329048X211027438

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