Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy.
The authors report a large pedigree from southern Italy with Charcot-Marie-Tooth disease type 2A (CMT2A). The clinical picture was uniform and characterized by distal muscular weakness and atrophy in the lower limbs, reduced or absent tendon reflexes mainly in the lower limbs, and mild sensory impairment in the feet. Significant linkage to the CMT2A locus on chromosome 1p35-p36 was detected. Based on informative recombination in affected individuals, the authors mapped the CMT2A gene between D1S160 and D1S170.
Muglia
M
M
Institute of Experimental Medicine and Biotechnology, National Research Council, Piano Lago di Mangone-Cosenza, Italy.
Zappia
M
M
Timmerman
V
V
Valentino
P
P
Gabriele
A L
AL
Conforti
F L
FL
De Jonghe
P
P
Ragno
M
M
Mazzei
R
R
Sabatelli
M
M
Nicoletti
G
G
Patitucci
A M
AM
Oliveri
R L
RL
Bono
F
F
Gambardella
A
A
Quattrone
A
A
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002878:Chromosomes, Human, Pair 1; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D008875:Middle Aged; D010375:Pedigree