## Charcot -Marie-Tooth (CMT) disease type 1A is an inherited peripheral neuropathy characterized by slowly progressive distal muscle wasting and weakness, decreased nerve conduction velocities, and genetic linkage to 17p12. Most (>98%) CMT1A cases are caused by a DNA duplication of a 1.5-Mb regio
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
β Scribed by Carla Marini; Ingrid E. Scheffer; Rima Nabbout; Davide Mei; Kathy Cox; Leanne M. Dibbens; Jacinta M. McMahon; Xenia Iona; Rochio Sanchez Carpintero; Maurizio Elia; Maria Roberta Cilio; Nicola Specchio; Lucio Giordano; Pasquale Striano; Elena Gennaro; J. Helen Cross; Sara Kivity; Miriam Y. Neufeld; Zaid Afawi; Eva Andermann; Daniel Keene; Olivier Dulac; Federico Zara; Samuel F. Berkovic; Renzo Guerrini; John C. Mulley
- Book ID
- 109111172
- Publisher
- Wiley (Blackwell Publishing)
- Year
- 2009
- Tongue
- English
- Weight
- 178 KB
- Volume
- 50
- Category
- Article
- ISSN
- 0013-9580
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