Litcius/Paper detail

Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)

Andrea Gangfuß, Andreas Hentschel, Lorena Heil, Maria Gonzalez, Anne Schönecker, Christel Depienne, Anna Nishimura, Diana Zengeler, Nicolai Kohlschmidt, Albert Sickmann, Ulrike Schara‐Schmidt, Dieter O. Fürst, Peter F. M. van der Ven, Andreas Hahn, Andreas Roos, Anne Schänzer

2022Molecular Genetics and Metabolism24 citationsDOI

Topics & Concepts

DysferlinMyofilamentPhenotypeMyopathySkeletal muscleBiologyMuscle weaknessSarcomereTransmembrane domainMissense mutationDystroglycanTransmembrane proteinMyocyteGeneInternal medicineEndocrinologyCell biologyGeneticsMedicineAnatomyLamininExtracellular matrixReceptorCardiomyopathy and Myosin StudiesCongenital heart defects researchMuscle Physiology and Disorders
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1) | Litcius