A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence

The tubulin beta-4A gene (TUBB4A) is associated with two different clinical conditions, dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We identified a novel TUBB4A mutation, c.286G>A (p.G96R), in an adult male patient who suffered neurological...

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Detalles Bibliográficos
Autores principales: Lu, Yongping, Ondo, Yumiko, Shimojima, Keiko, Osaka, Hitoshi, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540734/
https://www.ncbi.nlm.nih.gov/pubmed/28791129
http://dx.doi.org/10.1038/hgv.2017.35

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540734/
https://www.ncbi.nlm.nih.gov/pubmed/28791129
http://dx.doi.org/10.1038/hgv.2017.35

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