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Assessing non-Mendelian Inheritance in Inherited Axonopathies
PURPOSE: Inherited axonopathies (IA) are rare, clinically and genetically heterogeneous diseases that lead to length-dependent degeneration of the long axons in central (hereditary spastic paraplegia (HSP)) and peripheral (Charcot-Marie-Tooth type 2 (CMT2)) nervous systems. Mendelian high-penetrance...
Autores principales: | , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710562/ https://www.ncbi.nlm.nih.gov/pubmed/32741968 http://dx.doi.org/10.1038/s41436-020-0924-0 |