A Novel Variant in <i>TPM3</i> Causing Muscle Weakness and Concomitant Hypercontractile Phenotype

A Novel Variant in <i>TPM3</i> Causing Muscle Weakness and Concomitant Hypercontractile Phenotype

A novel variant of unknown significance c.8A > G (p.Glu3Gly) in <i>TPM3</i> was detected in two unrelated families. <i>TPM3</i> encodes the transcript variant Tpm3.12 (NM_152263.4), the tropomyosin isoform specifically expressed in slow skeletal muscle fibers. The patients...

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Bibliographic Details
Main Authors: Katarzyna Robaszkiewicz, Małgorzata Siatkowska, Renske I. Wadman, Erik-Jan Kamsteeg, Zhiyong Chen, Ashirwad Merve, Matthew Parton, Enrico Bugiardini, Charlotte de Bie, Joanna Moraczewska
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:International Journal of Molecular Sciences
Subjects:
nemaline myopathy
tropomyosin
pathogenic variant
thin filament
Online Access:https://www.mdpi.com/1422-0067/24/22/16147

Internet

https://www.mdpi.com/1422-0067/24/22/16147

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