A TPM2 mutation causes congenital myopathy with fibre-type disproportion

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 s...

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Veröffentlicht in:	Neurological sciences 2024-10
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
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Zusammenfassung:	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.
ISSN:	1590-1874 1590-3478 1590-3478
DOI:	10.1007/s10072-024-07810-3