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MOULA , Melissa

Last name: MOULA

First name: Melissa

2023 (v1)

Publication

Metadata-only

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Cardone, Nastasia Moula, Melissa Baelde, Rianne J

Congenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding the largest existing human protein involved in the formation and stability of sarcomeres. In this study we describe a patient with a congenital myopathy characterized by multiple contractures, a...

Uploaded on: February 4, 2024