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Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred
Centre for Medical Research, University of Western Australia, West Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, Western Australia 6009, Australia
Institute for Neuromuscular Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia; & Faculty of Medicine, University of Sydney, Sydney, Australia
Institute for Neuromuscular Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia; & Faculty of Medicine, University of Sydney, Sydney, Australia