Open AccessTremor-Ataxia Syndrome and Primary Ovarian Insufficiency in an FMR1 Premutation Carrier
Author(s) -
Wilmar Saldarriaga,
Tatiana RodriguezGuerrero,
Andrés FandiñoLosada,
Julián RamírezCheyne
Publication year - 2017
Publication title -
colombia medica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.455
H-Index - 18
eISSN - 1657-9534
pISSN - 0120-8322
DOI - 10.25100/cm.v48i3.3019
Subject(s) - ataxia , fmr1 , medicine , pediatrics , premature ovarian failure , fragile x syndrome , allele , gynecology , genetics , psychiatry , biology , gene
The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) syndrome.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom