A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

Congenital titinopathies are myopathies with variable phenotypes and inheritance modes. Here, we fully characterized, using an integrated approach (deep phenotyping, muscle morphology, mRNA and protein evaluation in muscle biopsies), two siblings with congenital multicore myopathy harboring three TT...

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Detalles Bibliográficos
Autores principales: Perrin, Aurélien, Metay, Corinne, Villanova, Marcello, Carlier, Robert‐Yves, Pegoraro, Elena, Juntas Morales, Raul, Stojkovic, Tanya, Richard, Isabelle, Richard, Pascale, Romero, Norma B., Granzier, Henk, Koenig, Michel, Malfatti, Edoardo, Cossée, Mireille
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261750/
https://www.ncbi.nlm.nih.gov/pubmed/32307885
http://dx.doi.org/10.1002/acn3.51031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261750/
https://www.ncbi.nlm.nih.gov/pubmed/32307885
http://dx.doi.org/10.1002/acn3.51031

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