Case Reports
doi: 10.1002/ajmg.a.31816.
Ovarian failure in ataxia with oculomotor apraxia type 2
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- PMID: 17593543
- DOI: 10.1002/ajmg.a.31816
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Case Reports
Ovarian failure in ataxia with oculomotor apraxia type 2
Am J Med Genet A.
.
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.
(c) 2007 Wiley-Liss, Inc.
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