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

Further Validation of the 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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Main Authors: Jessica J. Y. Lee BSc, Clara D. M. van Karnebeek MD, PhD, Britt Drögemoller PhD, Casper Shyr PhD, Maja Tarailo-Graovac PhD, Patrice Eydoux PhD, Colin J. Ross PhD, Wyeth W. Wasserman PhD, Bruce Björnson MD, John K. Wu MD
Format: Article
Language:English
Published: SAGE Publishing 2016-09-01
Series:Child Neurology Open
Online Access:https://doi.org/10.1177/2329048X16669912

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https://doi.org/10.1177/2329048X16669912

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