Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia

OBJECTIVE: To investigate the molecular basis of muscle disease and gnathodiaphyseal dysplasia (GDD) in a large kindred with 11 (6 women and 5 men) affected family members. METHODS: We performed clinical assessment of 3 patients and collected detailed clinical and family history data on 8 additional...

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Detalles Bibliográficos
Autores principales: Shaibani, Aziz, Khan, Shaida, Shinawi, Marwan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8290902/
https://www.ncbi.nlm.nih.gov/pubmed/34291158
http://dx.doi.org/10.1212/NXG.0000000000000612

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8290902/
https://www.ncbi.nlm.nih.gov/pubmed/34291158
http://dx.doi.org/10.1212/NXG.0000000000000612

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