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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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Dettagli Bibliografici
Pubblicato in:Neurol Genet
Autori principali: Nicolau, Stefan, Liewluck, Teerin, Tracy, Jennifer A., Laughlin, Ruple S., Milone, Margherita
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wolters Kluwer 2019
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Accesso online: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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