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Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases

From the Centre for Neuromuscular and Neurological Disorders (Dr. Laing, D.E. Dye, K. Liyanage, and R.M. Duff), Australian Neuromuscular Research Institute and Centre for Medical Research, University of Western Australia, West Australian Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia; Department of Neuropathology and EM (Drs. de Groote and Martin), Born-Bunge Foundation and University of Antwerp, Belgium; Departments of Neurology (Drs. Dubois and Robberecht) and Pathology (Dr. Sciot), University Hospital, K.U. Leuven, Belgium; and Department of Neuropathology (Dr. Goebel), Johannes Gutenberg University Medical Center, Mainz, Germany.

Address correspondence and reprint requests to Dr. Nigel G. Laing, Centre for Neuromuscular and Neurologic Disorders, University of Western Australia, Australian Neuromuscular Research Institute, 4th Floor, A Block, QEII Medical Centre, Nedlands, Western Australia 6009, Australia; e-mail: nlaing{at}cyllene.uwa.edu.au

Myosin storage myopathy is a congenital myopathy characterized by subsarcolemmal hyaline bodies in type 1 muscle fibers, which are ATPase positive and thus contain myosin. Mutations recently were identified in the type 1 muscle fiber myosin gene (MYH7) in Swedish and Saudi families with myosin storage myopathy. The authors have identified the arginine 1845 tryptophan mutation found in the Swedish families in two isolated Belgian cases, indicating a critical role for myosin residue arginine 1845.

Supported by the Australian National Health and Medical Research Council (NH&MRC) Fellowship 139170, NH&MRC Project Grant 139039, and the Association Française contre les Myopathies. Ultrastructural research was financially supported by a gift from the Antwerp Diamond Bank to the Born-Bunge Foundation. B.D. is supported by the Antwerp University Hospital Research Council, and W.R. is a Clinical Investigator of the Fund for Scientific Research (Flanders).

Received April 16, 2004. Accepted in final form September 8, 2004.

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