Approach to the diagnosis of congenital myopathies

Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due t...

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Detaylı Bibliyografya
Yayımlandı:Neuromuscul Disord
Asıl Yazarlar: North, Kathryn N., Wang, Ching H., Clarke, Nigel, Jungbluth, Heinz, Vainzof, Mariz, Dowling, James J., Amburgey, Kimberly, Quijano-Roy, Susana, Beggs, Alan H., Sewry, Caroline, Laing, Nigel G., Bönnemann, Carsten G.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2013
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5257342/
https://ncbi.nlm.nih.gov/pubmed/24456932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.11.003
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