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Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenital possible X-linked inheritance

✍ Scribed by David Castle; Hyam Isaacs; Michale Ramsay; Renee Bernstein

Book ID: 115091319
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 336 KB
Volume: 41
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1992.tb03644.x

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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