Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

J. Sarparanta, Per Harald Jonson, Christelle Golzio, +18

Nature Genetics

Genome InstabilitySkeletal MuscleGeneticsMolecular BiologyDegenerative Disease +5

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Rachael M. Duff, Valerie S. Tay, Peter Hackman, +20

The American Journal of Human Genetics

MechanobiologyFilamin C CauseN-terminal Actin-binding DomainDistal MyopathyMolecular Biology +5

Mutations in <i>HSPB8</i> causing a new phenotype of distal myopathy and motor neuropathy

Roula Ghaoui, Johanna Palmio, Janice Brewer, +18

Neurology

Late onset spinal motor neuronopathy is caused by mutation in <scp><i>CHCHD</i></scp><i>10</i>

Sini Penttilä, Manu Jokela, Heidi Bouquin, +3

Annals of Neurology

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Youjin Lee, Per Harald Jonson, J. Sarparanta, +25

Journal of Clinical Investigation

GeneticsPathologyDisease Gene IdentificationMultisystem ProteinopathyAlzheimer's Disease +15

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) Distal Myopathy

Phillipa J. Lamont, William Wallefeld, David Hilton‐Jones, +27

Human Mutation

Cardiac MuscleSkeletal Muscle DiseasesGeneticsDistal MyopathyPathology +22

Atypical phenotypes in titinopathies explained by second titin mutations

Anni Evilä, Anna Vihola, J. Sarparanta, +17

Annals of Neurology

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Johanna Palmio, Satu Sandell, Tiina Suominen, +6

Neuromuscular Disorders

Mendelian DisorderGenetic DisorderGeneticsPathologyVcp Gene Mutation +5

New phenotype and pathology features in MYH7-related distal myopathy

Giorgio Tasca, Enzo Ricci, Sini Penttilä, +6

Neuromuscular Disorders

New PhenotypeAutoimmune DiseaseMendelian DisorderHistopathologyPathology +3

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

Marzia Pollazzon, Tiina Suominen, Sini Penttilä, +9

Journal of Neurology

Novel Titin MutationMendelian DisorderGenetic DisorderMedicineGenetics +4