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Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24

โœ Scribed by Meriel E. McEntagart; Sarah L. Reid; Alexandre Irtthum; Jenny B. Douglas; Keith E. D. Eyre; Michael J. Donaghy; Neil E. Anderson; Nazneen Rahman


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
134 KB
Volume
57
Category
Article
ISSN
0364-5134

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We describe two brothers, 11 and 13 years old, respectively, with an early-onset hereditary motor and sensory neuropathy, deafness, and mental retardation. Electrophysiological studies showed marked reduction of motor and sensory conduction velocity and absence of sensory action potentials. Sural ne

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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