A TPM2 mutation causes congenital myopathy with fibre-type disproportion.
TPM2
Congenital myopathy
Muscle fibre disproportion
Tropomyosin
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
31 Oct 2024
31 Oct 2024
Historique:
received:
16
04
2024
accepted:
08
10
2024
medline:
31
10
2024
pubmed:
31
10
2024
entrez:
31
10
2024
Statut:
aheadofprint
Résumé
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.
Identifiants
pubmed: 39477909
doi: 10.1007/s10072-024-07810-3
pii: 10.1007/s10072-024-07810-3
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024. Fondazione Società Italiana di Neurologia.
Références
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