TPM2基因突变导致先天性肌病伴纤维类型不均衡。
A TPM2 mutation causes congenital myopathy with fibre-type disproportion.
作者信息
Lorenzoni Paulo José, Filla Luciane, Dal-Prá Ducci Renata, Fustes Otto Jesus Hernandez, Raquel do Vale Pascoal Rodrigues Paula, Arndt Raquel Cristina, Suemi Kamoi Kay Cláudia, Werneck Lineu Cesar, Scola Rosana Herminia
机构信息
Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil.
出版信息
Neurol Sci. 2025 Feb;46(2):1019-1022. doi: 10.1007/s10072-024-07810-3. Epub 2024 Oct 31.
We report a 9-year-old girl with delayed motor milestones and respiratory difficulty since birth. She presented as a floppy infant, with generalised muscle wasting, dysphagia and facial weakness. The muscle biopsy of the biceps brachii revealed congenital fibre-type disproportion (CFTD) and Sanger sequencing detected a pathogenic variant in the beta-tropomyosin (TPM2) gene (c.415_417delGAG; p.Glu139del). There has been only one previous report of CFTD associated with p.Glu139del in the TPM2 gene.
我们报告一名9岁女孩，自出生以来运动发育里程碑延迟且有呼吸困难。她表现为松软婴儿，伴有全身肌肉萎缩、吞咽困难和面部无力。肱二头肌肌肉活检显示先天性纤维类型不均衡（CFTD），桑格测序检测到β-原肌球蛋白（TPM2）基因存在致病性变异（c.415_417delGAG；p.Glu139del）。此前仅有一篇关于CFTD与TPM2基因p.Glu139del相关的报告。
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