A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)

Spinal Muscular Atrophy (SMA) is a heterogeneous group of neuromuscular diseases characterized by degeneration of anterior horn cells of the spinal cord, leading to muscular atrophy and weakness. Although the major cause of SMA is autosomal recessive exon deletions or loss-of-function mutations of s...

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Detalles Bibliográficos
Autores principales: Perez-Siles, G., Ellis, M., Ashe, A., Grosz, B., Vucic, S., Kiernan, M. C., Morris, K. A., Reddel, S. W., Kennerson, M. L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8807693/
https://www.ncbi.nlm.nih.gov/pubmed/35126465
http://dx.doi.org/10.3389/fgene.2021.801253

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