NDLI: Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity

Content Provider	Springer Nature Link
Author	Pericak Vance, M.A. Speer, M.C. Lenn, F. West, S.G. Meld, M.M. Stajich, J.M. Wolpert, C.M. Slotterbeck, B.D. Saito, M. Tim, R.W. Rozear, M.P. Middleton, L.T. Tsuji, S. Vance, J.M.
Copyright Year	1997
Abstract	The Charcot-Marie-Tooth (CMT) neuropathies are a group of disorders exhibiting neurophysical, pathological and genetic heterogeneity. CMT2 is a diagnostic subtype of this group of disorders characterized by variable expression and age-of-onset and normal or slightly diminished nerve conduction velocities. Previously, linkage and heterogeneity had been reported in CMT2 with linked families localizing to chromosome 1p (CMT2A). Recently a second CMT2 locus has been described on chromosome 7 in a single large CMT2 family (CMT2D). We have performed pedigree linkage analysis on 15 CMT2 families (N = 371 individuals, 106 affected family members) and have confirmed linkage to chromosome 7. Furthermore, using both admixture and multipoint linkage analysis we show conclusive evidence for additional heterogeneity within this clinical subtype with evidence of families that exclude linkage to both the CMT2D and CMT2A regions. In addition, unlike the previous report we found no abvious consistend clinical differences between the linked family types.
Starting Page	89
Ending Page	93
Page Count	5
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	1
Issue Number	2
Language	English
Publisher	Springer-Verlag
Publisher Date	1997-11-01
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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