Aberrant mRNA processing caused by splicing mutations in TTN-related neuromuscular disorders

Wang, GY; Wu, WJ; Lv, XQ; Yan, CZ; Lin, PF

Lin, PF (通讯作者),Shandong Univ, Res Inst Neuromuscular & Neurodegenerat Dis, Dept Neurol, Qilu Hosp, Jinan 250012, Shandong, Peoples R China.

JOURNAL OF HUMAN GENETICS, 2023; 68 (11): 777

Abstract

Mutations in the TTN gene have been reported to be responsible for a range of neuromuscular disorders, including recessive distal myopathy and congeni......

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