A TPM2 mutation causes congenital myopathy with fibre-type disproportion

期刊论文
发表日期：

2024年10月31日

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Paulo José Lorenzoni,
Luciane Filla,
Renata Dal-Prá Ducci,
Otto Jesus Hernandez Fustes,
Paula Raquel do Vale Pascoal Rodrigues,
Raquel Cristina Arndt,
Cláudia Suemi Kamoi Kay,
Lineu Cesar Werneck,
Rosana Herminia Scola

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.