A TPM2 mutation causes congenital myopathy with fibre-type disproportion

被引：0

作者：

Lorenzoni, Paulo Jose ^{[1
]}

Filla, Luciane ^{[1
]}

Ducci, Renata Dal-Pra ^{[1
]}

Fustes, Otto Jesus Hernandez ^{[1
]}

Rodrigues, Paula Raquel do Vale Pascoal ^{[1
]}

Arndt, Raquel Cristina ^{[1
]}

Kay, Claudia Suemi Kamoi ^{[1
]}

Werneck, Lineu Cesar ^{[1
]}

Scola, Rosana Herminia ^{[1
]}

机构：

[1] Univ Fed Parana UFPR, Hosp Clin, Dept Internal Med, Div Neurol,Serv Neuromuscular Disorders, BR-80060900 Curitiba, Parana, Brazil

来源：

NEUROLOGICAL SCIENCES | 2025年 / 46卷 / 02期

关键词：

Muscle fibre disproportion; Congenital myopathy; Tropomyosin; TPM2; PHENOTYPE;

D O I：

10.1007/s10072-024-07810-3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1019 / 1022

页数：4

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