Article
Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.
Journal of the neurological sciences - 15 Feb 2014
Miyamoto Ryosuke, Morino Hiroyuki, Yoshizawa Akio, Miyazaki Yoshimichi, Maruyama Hirofumi, Murakami Nagahisa, Fukada Kei, Izumi Yuishin, Matsuura Shinya, Kaji Ryuji, Kawakami Hideshi
Abstract excerpt
Progressive myoclonic ataxia (PMA) is a clinical syndrome defined as progressive ataxia and myoclonus and infrequent seizures in the absence of progressive dementia. Due to the extremely heterogeneous nature of PMA, a large proportion of PMA cases remain molecularly undiagnosed. The aim of this study was to clarify the molecular etiology of PMA. The patient was a 52-year-old female from consanguineous parents....
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