Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy
Xavière Lornage, Martial Mallaret, Roberto Silva‐Rojas, Valérie Biancalana, Diane Giovannini, Klaus Dieterich, Safaa Saker, Jean‐François Deleuze, Bernard Wuyam, Jocelyn Laporte, Johann Böhm
Topics & Concepts
Frameshift mutationBiologySkeletal muscleGene isoformMuscle contractureGeneticsMuscular dystrophyPhenotypeMuscle weaknessDystoniaMutationMuscle disorderPathologyMuscle atrophyAtrophyGeneEndocrinologyAnatomyNeuroscienceInternal medicineMedicineNuclear Structure and FunctionRNA Research and SplicingNeurogenetic and Muscular Disorders Research