Article
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Neurogenetics - 1 Jan 2015
Zimoń Magdalena, Battaloğlu Esra, Parman Yesim, Erdem Sevim, Baets Jonathan, De Vriendt Els, Atkinson Derek, Almeida-Souza Leonardo, Deconinck Tine, Ozes Burcak, Goossens Dirk, Cirak Sebahattin, Van Damme Philip, Shboul Mohammad, Voit Thomas, Van Maldergem Lionel, Dan Bernard, El-Khateeb Mohammed S, Guergueltcheva Velina, Lopez-Laso Eduardo, Goemans Nathalie, Masri Amira, Züchner Stephan, Timmerman Vincent, Topaloğlu Haluk, De Jonghe Peter, Jordanova Albena
Abstract excerpt
Autosomal recessive forms of Charcot-Marie-Tooth disease (ARCMT) are rare but severe disorders of the peripheral nervous system. Their molecular basis is poorly understood due to the extensive genetic and clinical heterogeneity, posing considerable challenges for patients, physicians, and researchers. We report on the genetic findings from a systematic study of a large collection of 174 independent ARCMT...
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