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Muscle MRI findings in a one-year-old girl with merosin-deficient congenital muscular dystrophy type 1A due to LAMA2 mutation: A case report

The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as del...

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Detalhes bibliográficos
Publicado no:Biomed Rep
Main Authors: Liang, Yingyin, Li, Guidian, Chen, Songlin, He, Rongxing, Zhou, Xiangxue , Chen, Yingming, Xu, Xue, Zhu, Ronglan, Zhang, Cheng
Formato: Artigo
Idioma:Inglês
Publicado em: D.A. Spandidos 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5526140/
https://ncbi.nlm.nih.gov/pubmed/28804634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/br.2017.935
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