Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene

A family of five male siblings (three survivors at 48, 53 and 58 years old; two deceased at 8 months old and 2.5 years old) demonstrating significant phenotypic variability ranging from intermediate to the myosclerotic like Bethlem myopathy is presented. Whole-exome sequencing (WES) identified a new...

Descripción completa

Detalles Bibliográficos
Autores principales: Bardakov, Sergey N., Deev, Roman V., Magomedova, Raisat M., Umakhanova, Zoya R., Allamand, Valérie, Gartioux, Corine, Zulfugarov, Kamil Z., Akhmedova, Patimat G., Tsargush, Vadim A., Titova, Angelina A., Mavlikeev, Mikhail O., Zorin, Vadim L., Chernets, Ekaterina N., Dalgatov, Gimat D., Konovalov, Fedor A., Isaev, Artur A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8075389/
https://www.ncbi.nlm.nih.gov/pubmed/33337382
http://dx.doi.org/10.3233/JND-200476

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8075389/
https://www.ncbi.nlm.nih.gov/pubmed/33337382
http://dx.doi.org/10.3233/JND-200476

Ejemplares similares