Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori, +8

The American Journal of Human Genetics

Developmental BiologySkeletal MuscleGenetic DisorderMedicineGenetics +6

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

Charlotte Fugier, Arnaud F. Klein, Caroline Hammer, +31

Nature Medicine

T Tubule AlterationsMedicineGeneticsPathologyMyotonic Dystrophy +4

Distinct muscle imaging patterns in myofibrillar myopathies

Dirk Fischer, Rudolf A. Kley, Katharina Strach, +17

Neurology

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Anna‐Kaisa Anttonen, I. Mahjneh, Riikka H. Hämäläinen, +14

Nature Genetics

Autoimmune DiseaseGenetic DisorderGeneticsPathologyHspa5 Cochaperone +6

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Fernande Freyermuth, Frédérique Rau, Yosuke Kokunai, +40

Nature Communications

Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2

Anna Vihola, Guillaume Bassez, G. Meola, +12

Neurology

MechanobiologyMuscle PathologyUrologyMuscle FunctionSkeletal Muscle +11

Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect

Linda L. Bachinski, Bjarne Udd, G. Meola, +20

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsExpansion Mutation +5

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

N. Ramachandran, Iulia Munteanu, Peixiang Wang, +21

Acta Neuropathologica

Autoimmune DiseaseAutophagyPathologyAutoimmunityAutophagic Vacuolar Myopathy +2

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

Tiina Suominen, Linda L. Bachinski, S. Auvinen, +6

European Journal of Human Genetics

Rare DiseasesMendelian DisorderGenetic DisorderMedicineGenetics +4

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by <i>ANO5</i>

S. Penttilä, Johanna Palmio, Tiina Suominen, +9

Neurology