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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Bibliographic Details
Published in:Hum Genome Var
Main Authors: Lu, Yongping, Ondo, Yumiko, Shimojima, Keiko, Osaka, Hitoshi, Yamamoto, Toshiyuki
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5540734/
https://ncbi.nlm.nih.gov/pubmed/28791129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.35
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