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A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons. A variant of Charcot-Marie-Tooth disease

✍ Scribed by C. Ruiz; F. Rivas; G. Ramírez-Casillas; R. Vázquez-Santana; B. Mendoza-Chalita; A. Feria-Velasco; G. Tapia-Arizmendi; J. M. Cantú

Book ID
115089556
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
702 KB
Volume
31
Category
Article
ISSN
0009-9163

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Duplication of part of chromosome 17 is
Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)
✍ P. J. Hallam; A. E. Harding; J. Berciano; D. F. Barker; Dr S. Malcolm 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 477 KB 👁 3 views

Hereditary motor and sensory neuropathy type I (HMSNI), also known as Charcot-Marie-Tooth disease type 1 (CMTl), has been shown to be genetically heterogeneous. A major gene maps to chromosome 17 (CMTlA). A set of loci, D17S122, D17S125, and D17S124, show tight linkage to the C M T l A locus, and a