| Autor: |
Ionasescu, V. V., Trofatter, J., Haines, J. L., Ionasescu, R., Searby, C. |
| Zdroj: |
Neurology (Ovid); April 1992, Vol. 42 Issue: 4 p903-908, 6p |
| Abstrakt: |
We performed a clinical study and linkage analysis on 278 subjects (66 affected) belonging to eight families with X-linked dominant Charcot-Marie-Tooth (CMT) neuropathy. This form affects 11.8 of CMT patients in Iowa. Motor nerve conduction velocities (MNCVs) were significantly slowed consistent with type 1 CMT. Fifty-six obligate carriers manifested mild distal weakness, localized areflexia, pes cavus, and slowing on MNCVs. Seven X-linked restriction fragment length polymorphisms mapping in the Xpll-q 21 region were tested for linkage against CMT. Two-point linkage results showed the highest low scores with PGK1, DXS159, and DXYS1. Multipoint linkage analysis excluded the CMT gene from being telomeric to either DXS14 or DXYS1, with over 1,000:1 odds. The highest location scores were at PGK1 and 1 cM proximal to DXS159. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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