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Title:

Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

Document type:
Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):
Schabhüttl, Maria; Wieland, Thomas; Senderek, Jan; Baets, Jonathan; Timmerman, Vincent; De Jonghe, Peter; Reilly, Mary M; Stieglbauer, Karl; Laich, Eva; Windhager, Reinhard; Erwa, Wolfgang; Trajanoski, Slave; Strom, Tim M; Auer-Grumbach, Michaela
Abstract:
Inherited peripheral neuropathies (IPN) are one of the most frequent inherited causes of neurological disability characterized by considerable phenotypic and genetic heterogeneity. Based on clinical and electrophysiological properties, they can be subdivided into three main groups: HMSN, dHMN, and HSN. At present, more than 50 IPN genes have been identified. Still, many patients and families with IPN have not yet received a molecular genetic diagnosis because clinical genetic testing usually onl...     »
Journal title abbreviation:
J Neurol
Year:
2014
Journal volume:
261
Journal issue:
5
Pages contribution:
970-82
Language:
eng
Fulltext / DOI:
doi:10.1007/s00415-014-7289-8
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/24627108
Print-ISSN:
0340-5354
TUM Institution:
Institut für Humangenetik
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