Ontology highlight
ABSTRACT:
SUBMITTER: North KN
PROVIDER: S-EPMC5257342 | biostudies-literature | 2014 Feb
REPOSITORIES: biostudies-literature
North Kathryn N KN Wang Ching H CH Clarke Nigel N Jungbluth Heinz H Vainzof Mariz M Dowling James J JJ Amburgey Kimberly K Quijano-Roy Susana S Beggs Alan H AH Sewry Caroline C Laing Nigel G NG Bönnemann Carsten G CG
Neuromuscular disorders : NMD 20131118 2
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 to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature ...[more]