A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype

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

Descripción completa

Detalles Bibliográficos
Autores principales: Robaszkiewicz, Katarzyna, Siatkowska, Małgorzata, Wadman, Renske I., Kamsteeg, Erik-Jan, Chen, Zhiyong, Merve, Ashirwad, Parton, Matthew, Bugiardini, Enrico, de Bie, Charlotte, Moraczewska, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671854/
https://www.ncbi.nlm.nih.gov/pubmed/38003336
http://dx.doi.org/10.3390/ijms242216147

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10671854/
https://www.ncbi.nlm.nih.gov/pubmed/38003336
http://dx.doi.org/10.3390/ijms242216147

Ejemplares similares