Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers
โ Scribed by Middleton-Price, H.R.; Harding, A.E.; Berciano, J.; Pastor, J.M.; Huson, S.M.; Malcolm, S.
- Book ID
- 122962946
- Publisher
- Elsevier Science
- Year
- 1989
- Tongue
- English
- Weight
- 605 KB
- Volume
- 4
- Category
- Article
- ISSN
- 0888-7543
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A 30-year-old male with hereditary motor and sensory neuropathy, type I (HMSN I), presented with asymmetric weakness of finger extension and radial deviation with left wrist extension, previously felt to be a manifestation of the peripheral neuropathy. Nerve conduction studies confirmed HMSN I; howe
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