DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy

Kieninger, S; Xiao, T; Weisschuh, N; Kohl, S; Ruther, K; Kroisel, PM; Brockmann, T; Knappe, S; Kellner, U; Lagreze, W; Mazzola, P; Haack, TB; Wissinger, B; Tonagel, F

Tonagel, F (通讯作者)，Univ Tubingen, Ctr Ophthalmol, Tubingen, Germany.

JOURNAL OF MEDICAL GENETICS, 2022; 59 (10): 1027

Abstract

Background Leber's hereditary optic neuropathy (LHON) has been considered a prototypical mitochondriopathy and a textbook example for maternal inherit......

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