Article
GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy.
Annals of clinical and translational neurology - 1 Jun 2021
Yu Jiaxi, Luan Xing-Hua, Yu Meng, Zhang Wei, Lv He, Cao Li, Meng Lingchao, Zhu Min, Zhou Binbin, Wu Xiao-Rong, Li Pidong, Gang Qiang, Liu Jing, Shi Xin, Liang Wei, Jia Zhirong, Yao Sheng, Yuan Yun, Deng Jianwen, Hong Daojun, Wang Zhaoxia
Abstract excerpt
BACKGROUND: The expansion of GGC repeat in the 5' untranslated region of the NOTCH2NLC has been associated with various neurogenerative disorders of the central nervous system and, more recently, oculopharyngodistal myopathy. This study aimed to report patients with distal weakness with both neuropathic and myopathic features on electrophysiology and pathology who present GGC repeat expansions in the NOTCH2NLC....
Topics
- Adult
- Distal Myopathies
- Female
- Hereditary Sensory and Motor Neuropathy
- Humans
- Intercellular Signaling Peptides and Proteins
- Intranuclear Inclusion Bodies
- Male
- Middle Aged