A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy

BACKGROUND AND OBJECTIVES: Nemaline myopathy may be caused by pathogenic variants in the TPM3 gene and is then called NEM1. All previously identified disease-causing variants are point mutations including missense, nonsense and splice-site variants. The aim of the study was to identify the disease-c...

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Detalles Bibliográficos
Autores principales: Kiiski, K., Lehtokari, V-L., Manzur, A.Y., Sewry, C., Zaharieva, I., Muntoni, F., Pelin, K., Wallgren-Pettersson, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2015
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240603/
https://www.ncbi.nlm.nih.gov/pubmed/27858751
http://dx.doi.org/10.3233/JND-150107

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