Article
The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.
Human molecular genetics - 20 Jul 2023
Lv Xiaoqing, Lin Feng, Wu Wenjing, Wang Hui, Luo Yuebei, Wang Zhiqiang, Yan Chuanzhu, Lv He, Luo Sushan, Lin Pengfei
Abstract excerpt
Limb-girdle muscular dystrophy R7 (LGMDR7) is an autosomal recessive hereditary muscular dystrophy caused by mutations in titin-cap (TCAP). Here, we summarized the clinical characteristics and TCAP mutations in a Chinese cohort of 30 patients with LGMDR7. The onset age of Chinese patients was 19.89 ± 6.70 years old, which is later than European and South Asian patients (P < 0.05). Clinically speaking, 20.0% of...
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