Signs and Symptoms in Congenital Myopathies

Congenital myopathies (CM) represent a continuously growing group of disorders with a wide range of clinical and histopathologic presentations. The refinement and application of new technologies for genetic diagnosis have broadened our understanding of the genetic causes of CM. Our growing knowledge...

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Veröffentlicht in:	Seminars in pediatric neurology 2019-04, Vol.29, p.3-11
Hauptverfasser:	Gonorazky, Hernan D., Dowling, James J., Volpatti, Jonathan R., Vajsar, Jiri
Format:	Artikel
Sprache:	eng
Schlagworte:	Humans Mutation Myopathies, Structural, Congenital - diagnosis Myopathies, Structural, Congenital - genetics
Online-Zugang:	Volltext
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