Article
A hemizygous GYG2 mutation and Leigh syndrome: a possible link?
Human genetics - 1 Feb 2014
Imagawa Eri, Osaka Hitoshi, Yamashita Akio, Shiina Masaaki, Takahashi Eihiko, Sugie Hideo, Nakashima Mitsuko, Tsurusaki Yoshinori, Saitsu Hirotomo, Ogata Kazuhiro, Matsumoto Naomichi, Miyake Noriko
Abstract excerpt
Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder characterized by unique, bilateral neuropathological findings in brainstem, basal ganglia, cerebellum and spinal cord. LS is genetically heterogeneous, with the majority of the causative genes affecting mitochondrial malfunction, and many cases still remain unsolved. Here, we report male sibs affected with LS showing ketonemia, but no...
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