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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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Foilsithe in: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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2013
Ábhair:
Rochtain Ar Líne: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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