A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

Debbie Hicks, Anna Sárközy, Nuria Muelas, +18

Brain

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

Jan Senderek, Juliane Müller, Marina Dusl, +36

The American Journal of Human Genetics

Neuromuscular JunctionMolecular NeuroscienceMedicineMolecular BiologyDegenerative Disease +4

Charcot-Marie-Tooth disease

Rafael Sivera, Teresa Sevilla, Juan J. Vílchez, +8

Neurology

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Ana Töpf, Katherine Johnson, Adam Bates, +96

Genetics in Medicine

<i>MYH7</i> gene tail mutation causing myopathic profiles beyond Laing distal myopathy

Nuria Muelas, Peter Hackman, H. Luque, +9

Neurology

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

Teresa Sevilla, Teresa Jaijo, D. Nauffal, +8

Brain

PhoniatricsVocal Cord ParesisRare DiseasesCmt PatientsGdap1-associated Neuropathy +12

Mutations in the<i>MORC2</i>gene cause axonal Charcot–Marie–Tooth disease

Teresa Sevilla, Vincenzo Lupo, Dolores Martínez‐Rubio, +10

Brain

Rare DiseasesMorc2 P.s25l MutationMendelian DisorderGenetic DisorderCharcot-marie-tooth Disease +12

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

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Velina Guergueltcheva, Juliane Müller, Marina Dusl, +34

Journal of Neurology

Mendelian DisorderGenetic DisorderPathologyTubular AggregatesConnective Tissue Disease

Molecular characterization of congenital myasthenic syndromes in Spain

Daniel Natera‐de Benito, Ana Töpf, Juan J. Vílchez, +28

Neuromuscular Disorders

Developmental AnomalyMendelian DisorderCongenital Myasthenic SyndromesGenetic DisorderGenetics +4