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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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Bibliografiske detaljer
Udgivet i:Neuromuscul Disord
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: 2013
Fag:
Online adgang: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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