Article
Approach to the diagnosis of congenital myopathies.
Neuromuscular disorders : NMD - 1 Feb 2014
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
Abstract excerpt
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 du...
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