A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

To date, only two splice-site mutations within the TPM2 gene have been shown to be causative for congenital myopathies. While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated wi...

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Detalles Bibliográficos
Autores principales: Mroczek, Magdalena, Kabzińska, Dagmara, Chrzanowska, Krystyna H., Pronicki, Maciej, Kochański, Andrzej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2016
Materias:
Human Genetics • Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391399/
https://www.ncbi.nlm.nih.gov/pubmed/27726070
http://dx.doi.org/10.1007/s13353-016-0368-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391399/
https://www.ncbi.nlm.nih.gov/pubmed/27726070
http://dx.doi.org/10.1007/s13353-016-0368-z

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