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New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

OBJECTIVE: The objective of this study was to validate the immunohistochemical assay for the diagnosis of nondystrophic myotonia and to provide full clarification of clinical disease to patients in whom basic genetic testing has failed to do so. METHODS: An immunohistochemical assay of sarcolemmal c...

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Detalhes bibliográficos
Main Authors: Raheem, Olayinka, Penttilä, Sini, Suominen, Tiina, Kaakinen, Mika, Burge, James, Haworth, Andrea, Sud, Richa, Schorge, Stephanie, Haapasalo, Hannu, Sandell, Satu, Metsikkö, Kalervo, Hanna, Michael, Udd, Bjarne
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3570820/
https://ncbi.nlm.nih.gov/pubmed/23152584
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31827595e2
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