Autonomic nervous system involvement in a new CMT2B family.
J Peripher Nerv Syst
; 17(3): 361-4, 2012 Sep.
Article
en En
| MEDLINE
| ID: mdl-22971099
We describe the first Italian family affected by CMT2B carrying a Val162Met substitution in the RAB7 gene. The clinical and electrophysiological features of our family are similar to those of previously reported families with RAB7 mutations, also for the higher occurrence of ulcers in males. However, in this family we evaluated the autonomic nervous system, never investigated in CMT2B, by means of skin biopsy and sudomotor and cardiovascular tests. Our findings provide both pathological and functional evidence of autonomic nervous system involvement in CMT2B and expand the phenotypic characterization of CMT2B disease.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades del Sistema Nervioso Autónomo
/
Enfermedad de Charcot-Marie-Tooth
Límite:
Aged80
/
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
J Peripher Nerv Syst
Asunto de la revista:
NEUROLOGIA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Estados Unidos