STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Human Mutation,Volume 0, Issue ja, -Not available-.

Source: Human Mutation - August 31, 2018 Category: Genetics & Stem Cells Authors: IrinaZaharieva , AnnaSarkozy , PinkiMunot , AdnanManzur , GinaO'Grady , JohnRendu , EduardoMalfatti , HelgeAmthor , LaurentServais , J. AndoniUrtizberea , Osorio AbathNeto , EdmarZanoteli , SandraDonkervoort , JulietTaylor , J Source Type: research