Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

C. Godfrey, Emma Clement, R. Mein, +19

Brain

Autosomal recessive inheritance of <i>RYR1</i> mutations in a congenital myopathy with cores

Heinz Jungbluth, C. R. Müller, B. Halliger–Keller, +14

Neurology

Muscle histology vs MRI in Duchenne muscular dystrophy

Maria Kinali, Virginia Arechavala‐Gomeza, Sebahattin Çirak, +20

Neurology

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Lorenzo Maggi, Mariacristina Scoto, Sebahattin Çirak, +10

Neuromuscular Disorders

Developmental AnomalyFamily MedicineMendelian DisorderPediatricsCongenital Disorders +5

Skeletal muscle pathology in autosomal dominant Emery‐Dreifuss muscular dystrophy with lamin A/C mutations

Caroline A. Sewry, S. Brown, Eugenio Mercuri, +5

Neuropathology and Applied Neurobiology

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

C. Jimenez‐Mallebrera, Maria Antonietta Maioli, Jihee Kim, +9

Neuromuscular Disorders

Skeletal MusclePathologyCollagen Vi ProductionDermatologyComparative Analysis +3

Collagen VI involvement in Ullrich syndrome

Eugenio Mercuri, Yeliz Yuva, S. Brown, +6

Neurology

Immunohistological intensity measurements as a tool to assess sarcolemma‐associated protein expression

Virginia Arechavala‐Gomeza, Maria Kinali, L. Feng, +4

Neuropathology and Applied Neurobiology

<i>SEPN1</i> -related myopathies

Mariacristina Scoto, Sebahattin Çirak, R. Mein, +17

Neurology

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

Pinki Munot, Daniel Lashley, Heinz Jungbluth, +12

Neuromuscular Disorders

Developmental BiologyGenetic DisorderGeneticsPathologyTropomyosin 3 +2