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Familial myopathy associated with marfanoid features and multicores

Joyce, D.A., Mastaglia, F.L., Ojeda, V.J. and Spagnolo, D.V. (1984) Familial myopathy associated with marfanoid features and multicores. Australian and New Zealand Journal of Medicine, 14 (4). pp. 495-499.

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The cases of a mother and son with a slowly progressive generalised myopathy and Marfanoid features are described. Muscle biopsies showed atrophy, type 1 fibre preponderance, excessive variation in fibre size and shape, and multiple foci of myofibrillar disorganisation with loss of oxidative enzyme activity of the type found in multicore disease.

Item Type: Journal Article
Publisher: John Wiley & Sons Inc.
Copyright: 1984 John Wiley & Sons Inc.
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