The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Iris Eisenberg, Nili Avidan, Tamara Potikha, +17

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsMolecular BiologyDegenerative Disease +3

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

“Rimmed vacuole myopathy” sparing the quadriceps

Zohar Argov, R. Yarom

Journal of the Neurological Sciences

Health SciencesMedicineApplied PhysiologyNeuromuscular PathologyOrthopaedic Surgery +3

Distinct muscle imaging patterns in myofibrillar myopathies

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

Neurology

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

Ichizo Nishino, S. Noguchi, K. Murayama, +14

Neurology

Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

Christopher S. Meredith, Ralf Herrmann, Cheryl Parry, +15

The American Journal of Human Genetics

Mitochondrial MyopathyMuscle FunctionSkeletal MuscleGenetic DisorderGenetics +6

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

Eugenio Mercuri, Kate Bushby, Enzo Ricci, +10

Neuromuscular Disorders

Calpain 3Early ContracturesSkeletal MuscleMedicineMuscle Mri Findings +7

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

Heinz Jungbluth, Mark R. Davis, Clemens R. Müller, +9

Neuromuscular Disorders

Mitochondrial MyopathyRyr1 MutationsMedicineCongenital MyopathiesNeuromuscular Pathology +5

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

Eugenio Mercuri, Emma Clement, Amaka C Offiah, +11

Annals of Neurology

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies

Carmen Paradas, Jaume Llauger, Jordi Díaz‐Manera, +7

Neurology