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
Publicado en:Child Neurol Open
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: SAGE Publications 2016
Assuntos:
Brief Communication
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5417346/
https://ncbi.nlm.nih.gov/pubmed/28503617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2329048X16669912
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