Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease
Abstract Background Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes of CMT leading to improved diagnostics and understanding of pathophysi...
Main Authors: | Gerrit M. Grosse, Christine Bauer, Bruno Kopp, Christoph Schrader, Alma Osmanovic |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-03-01
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Series: | BMC Medical Genetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12881-020-0984-7 |
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