Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

Distal hereditary motor neuropathies represent a group of rare genetic disorders characterized by progressive distal motor weakness without sensory loss. Their genetic heterogeneity is high and thus eligible for diagnostic whole exome sequencing. The authors report successful application of whole ex...

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Detalles Bibliográficos
Autores principales: Lee, Jessica J. Y., van Karnebeek, Clara D. M., Drögemoller, Britt, Shyr, Casper, Tarailo-Graovac, Maja, Eydoux, Patrice, Ross, Colin J., Wasserman, Wyeth W., Björnson, Bruce, Wu, John K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2016
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417346/
https://www.ncbi.nlm.nih.gov/pubmed/28503617
http://dx.doi.org/10.1177/2329048X16669912

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417346/
https://www.ncbi.nlm.nih.gov/pubmed/28503617
http://dx.doi.org/10.1177/2329048X16669912

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