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Infantile myopathies with diaphragmatic paralysis are genetically heterogeneous, and clinical symptoms do not assist in differentiating between them. We used phased haplotype analysis with subsequent targeted exome sequencing to identify MEGF10 mutations in a previously unidentified type of infantile myopathy with diaphragmatic weakness, areflexia,(More)
The incidence of abdominal pain during hysterosalpingography was assessed from replies to postal questionnaires completed by 42 patients receiving Diaginol Viscous and 23 patients receiving Dimer X: the questionnaires were analysed using a double-blind technique. In the Diaginol Viscous group, 58.5% of patients experienced moderate or severe pain during the(More)