ISSN:
1432-1076
Keywords:
Charcot-Marie-Tooth disease 1A
;
Duplication on chromosome 17p11.2
;
Variable clinical phenotype
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Charcot-Marie-Tooth disease (CMT) was diagnosed by nerve conduction velocity and histology of the sural nerve in two boys aged 3 and 6 years with clinical signs of a severe neuromuscular disease. DNA analysis revealed the typical duplication on chromosome 17p 11.2 (2.7 kb allele) for CMT 1A. Although none of their family members reported symptoms of neuromuscular disease, the nerve conduction velocity was reduced in three members (father and two aunts). They were homozygous for the 2.7 kb allele and were assumed to carry three copies of this allele. The very differing clinical picture from one generation to the next in patients with identical neurophysiological and genetic results is discussed.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02191504
Permalink
