Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy.
Neurology
; 56(1): 100-3, 2001 Jan 09.
Article
em En
| MEDLINE
| ID: mdl-11148244
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 1
/
Doença de Charcot-Marie-Tooth
/
Saúde da Família
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Ligação Genética
Limite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Neurology
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Itália