Article
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.
Mitochondrion - 1 Mar 2022
Shimura Masaru, Onuki Takanori, Sugiyama Yohei, Matsuhashi Tetsuro, Ebihara Tomohiro, Fushimi Takuya, Tajika Makiko, Ichimoto Keiko, Matsunaga Ayako, Tsuruoka Tomoko, Nitta Kazuhiro R, Imai-Okazaki Atsuko, Yatsuka Yukiko, Kishita Yoshihito, Ohtake Akira, Okazaki Yasushi, Murayama Kei
Abstract excerpt
The m.14453G > A mutation in MT-ND6 has been described in a few patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes or Leigh syndrome.However, the clinical spectrum and molecular characteristics are unclear.Here, we present four infantile-onset patients with m.14453G > A-associated Leigh syndrome. All four patients had brainstem lesions with basal ganglia lesions, and two...
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