ISSN:
1590-3478
Keywords:
Key words Charcol-Marie-Tooth disease
;
CMT-X1
;
Connexin-32
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract We report a 26-year-old Italian man with X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMT-X1) and a negative family history for neuromuscular diseases. Clinical and electrophysiological examinations of the patient's mother and siblings were normal. Molecular analysis by polymerase chain reaction – single-strand conformation polymorphism (PCR-SSCP) on genomic DNA from the patient and all members of his family revealed a C-to-T transition in codon 8 of exon 2 of the connexin-32 (Cx32) gene on the X chromosome only in the patient. This transition in the 5'-coding region, resulting in a Thr-Ile substitution, is likely to be the cause of CMT phenotype in our patient, and it represents a new de novo mutation of the Cx32 gene.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100720070105
Permalink