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

Welander distal myopathy is caused by a mutation in the RNA‐binding protein TIA1

Peter Hackman, J. Sarparanta, Sara Lehtinen, +10

Annals of Neurology

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Anni Evilä, Johanna Palmio, Anna Vihola, +15

Molecular Neurobiology

Genetic DisorderGeneticsPathologyMolecular GeneticsDisease Gene Identification +2

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

Marco Savarese, Mridul Johari, Katherine Johnson, +25

Journal of Neuromuscular Diseases

An unusual ryanodine receptor 1 (RYR1) phenotype

Manu Jokela, Giorgio Tasca, Anna Vihola, +13

Neurology

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Manu Jokela, Sara Lehtinen, Johanna Palmio, +4

Journal of Neurology