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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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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Nicolau, Stefan, Liewluck, Teerin, Tracy, Jennifer A., Laughlin, Ruple S., Milone, Margherita
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6563518/
https://ncbi.nlm.nih.gov/pubmed/31321302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000341
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