Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
Neurology
; 66(5): 748-51, 2006 Mar 14.
Article
en En
| MEDLINE
| ID: mdl-16534117
ABSTRACT
Hereditary sensory and autonomic neuropathy type II (HSAN-II) is caused by recessive mutations in the HSN2 gene assigned to chromosome 12p13.33. The authors report three unrelated HSAN-II families with homozygous or compound heterozygous mutations resulting in the truncation of the HSN2 protein. Genotype-phenotype correlations indicated that HSN2 mutations are associated with an early childhood onset of a predominantly sensory neuropathy, complicated by acromutilations in both upper and lower limbs.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 12
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Neuropatías Hereditarias Sensoriales y Autónomas
/
Mutación
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Proteínas del Tejido Nervioso
Límite:
Adult
/
Female
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Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Neurology
Año:
2006
Tipo del documento:
Article
País de afiliación:
Bélgica