Novel autosomal dominant TNNT1 mutation causing nemaline myopathy

BACKGROUND: Nemaline myopathy (NEM) is one of the three major forms of congenital myopathy and is characterized by diffuse muscle weakness, hypotonia, respiratory insufficiency, and the presence of nemaline rod structures on muscle biopsy. Mutations in troponin T1 (TNNT1) is 1 of 10 genes known to c...

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Detalles Bibliográficos
Autores principales: Konersman, Chamindra G., Freyermuth, Fernande, Winder, Thomas L., Lawlor, Michael W., Lagier‐Tourenne, Clotilde, Patel, Shailendra B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702563/
https://www.ncbi.nlm.nih.gov/pubmed/29178646
http://dx.doi.org/10.1002/mgg3.325

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702563/
https://www.ncbi.nlm.nih.gov/pubmed/29178646
http://dx.doi.org/10.1002/mgg3.325

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