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- Title
Atypical phenotype of charcot-marie-tooth disease type 1A.
- Authors
Murakami, Tatsufumi; Oomori, Hiroyuki; Hara, Akio; Uyama, Eiichiro; Mita, Shuji; Uchino, Makoto; Murakami, T; Oomori, H; Hara, A; Uyama, E; Mita, S; Uchino, M
- Abstract
Two sisters with a Charcot-Marie-Tooth disease type 1A (CMT1A) duplication, who had an unusual CMT1A clinical phenotype, are described. The 63-year-old proband presented with dysesthesia on the inner side of the right leg. Neurological examination revealed a localized sensory disturbance in the lower extremities and mild weakness in the feet and left hand. Her 61-year-old sister had experienced several episodes of acute paralysis, and neurological examination showed moderate, sensory-dominant polyneuropathy. A reduction of myelinated fibers with many onion-bulb formations were observed in the sural nerve of the proband, and electrophysiological studies showed reduced motor nerve conduction velocities in both sisters. To diagnose CMT1A, we developed a CMT1A duplication test based on detection of CMT1A-specific junction fragments using the long polymerase chain reaction (PCR) method. A 3.3-kb CMT1A-specific junction fragment was detected in both patients, and their neuropathy may therefore have been associated with CMT1A duplication.
- Subjects
GENETIC mutation; GENETICS; GENETIC testing; FAMILY health; DNA probes; CHARCOT-Marie-Tooth disease; POLYMERASE chain reaction; PHENOTYPES
- Publication
Muscle & Nerve, 1999, Vol 22, Issue 11, p1593
- ISSN
0148-639X
- Publication type
journal article
- DOI
10.1002/(SICI)1097-4598(199911)22:11<1593::AID-MUS17>3.0.CO;2-H