Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene.
Neuromuscul Disord
; 12(7-8): 651-5, 2002 Oct.
Article
em En
| MEDLINE
| ID: mdl-12207933
ABSTRACT
Hereditary neuropathy with liability to pressure palsies is associated with a deficiency in the Peripheral Myelin Protein 22 (PMP22). Most hereditary neuropathy with liability to pressure palsies cases are caused by a deletion of a 1.5 Mb region on chromosome 17p11.2-12 encompassing the PMP22 gene. We describe a hereditary neuropathy with liability to pressure palsies family that lacks the common deletion, but carries a small deletion spanning the 3' region of the PMP22 gene, causing only a partial deletion of one copy of the gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Paralisia
/
Neuropatia Hereditária Motora e Sensorial
/
Proteínas da Mielina
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Neuromuscul Disord
Ano de publicação:
2002
Tipo de documento:
Article