Ovarian failure in ataxia with oculomotor apraxia type 2.
Am J Med Genet A
; 143A(15): 1775-7, 2007 Aug 01.
Article
en En
| MEDLINE
| ID: mdl-17593543
ABSTRACT
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder associated with mutations in the Senataxin (SETX) gene. Clinical manifestations (ataxia, peripheral neuropathy, oculomotor apraxia) of this disease have previously been limited to the nervous system. We describe a patient homozygous for a novel mutation of SETX who manifested not only ataxia but also ovarian failure.
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Base de datos:
MEDLINE
Asunto principal:
Insuficiencia Ovárica Primaria
/
ARN Helicasas
/
Apraxia Ideomotora
/
Mutación
Tipo de estudio:
Diagnostic_studies
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2007
Tipo del documento:
Article