Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls

OBJECTIVE: To investigate the spectrum of undiagnosed congenital myopathies (CMs) in adults presenting to our neuromuscular clinic and to identify the pitfalls responsible for diagnostic delays. METHODS: We conducted a retrospective review of patients diagnosed with CM in adulthood in our neuromuscu...

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Detalles Bibliográficos
Autores principales: Nicolau, Stefan, Liewluck, Teerin, Tracy, Jennifer A., Laughlin, Ruple S., Milone, Margherita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563518/
https://www.ncbi.nlm.nih.gov/pubmed/31321302
http://dx.doi.org/10.1212/NXG.0000000000000341

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563518/
https://www.ncbi.nlm.nih.gov/pubmed/31321302
http://dx.doi.org/10.1212/NXG.0000000000000341

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