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Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein
Spinal muscular atrophies (SMAs) are characterized by degeneration of spinal motor neurons and muscle weakness. Autosomal recessive SMA is the most common form and is caused by homozygous deletions/mutations of the SMN1 gene. However, families with dominant inherited SMA have been reported, for most...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633519/ https://www.ncbi.nlm.nih.gov/pubmed/26594138 http://dx.doi.org/10.3389/fnins.2015.00401 |