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Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Published on: July 15, 2014
A TPM2 mutation causes congenital myopathy with fibre-type disproportion
Paulo José Lorenzoni1, Luciane Filla2, Renata Dal-Prá Ducci2
1Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal do Paraná (UFPR), Curitiba, 80060-900, Brazil. lorenzoni@ufpr.br.
Abstract:
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.
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