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Dystrophinopathy muscle biopsies in the genetic testing era: one center’s data

INTRODUCTION: Comprehensive genetic testing for dystrophinopathy can detect ~95% of pathogenic variants in DMD and is often the preferred diagnostic approach. METHODS: We reviewed pathology reports for muscle biopsies evaluated at the University of Iowa with a pathological diagnosis of dystrophinopa...

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Detalhes bibliográficos
Publicado no:Muscle Nerve
Main Authors: Carlson, Courtney R, Moore, Steven A, Mathews, Katherine D
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6057846/
https://ncbi.nlm.nih.gov/pubmed/29365344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.26083
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