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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Bibliografische gegevens
Gepubliceerd in:Neuromuscul Disord
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2013
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Article
Online toegang: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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