P.178A novel mutation in TNPO3 causes congenital limb girdle myopathy with slow progression
Anna Vihola(University of Helsinki), Bjarne Udd(Folkhälsans Forskningscentrum), Conrad C. Weihl(Washington University in St. Louis), Johanna Palmio, S. Penttilä(Institute of Genetics), Sara K. Pittman(Tampere University), Daniel Louiselle(Tampere University), Olof Danielsson(Linköping University)
Cited by 1
Related Papers
The myotonic dystrophies: molecular, clinical, and therapeutic challenges
|The Lancet Neurology|2012|487
Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin
|The American Journal of Human Genetics|2002|484
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
|Nature Medicine|2011|333
Distinct muscle imaging patterns in myofibrillar myopathies
|Neurology|2008|261
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
|Nature Genetics|2005|241