Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression

OBJECTIVE: We report a second family with autosomal dominant transportinopathy presenting with congenital or early-onset myopathy and slow progression, causing proximal and less pronounced distal muscle weakness. METHODS: Patients had clinical examinations, muscle MRI, EMG, and muscle biopsy studies...

Descripción completa

Detalles Bibliográficos
Autores principales: Vihola, Anna, Palmio, Johanna, Danielsson, Olof, Penttilä, Sini, Louiselle, Daniel, Pittman, Sara, Weihl, Conrad, Udd, Bjarne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515942/
https://www.ncbi.nlm.nih.gov/pubmed/31192305
http://dx.doi.org/10.1212/NXG.0000000000000337

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515942/
https://www.ncbi.nlm.nih.gov/pubmed/31192305
http://dx.doi.org/10.1212/NXG.0000000000000337

Ejemplares similares