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Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure

Lookup NU author(s): Dr Daniel Birchall, Emeritus Professor David Bates, Emerita Professor Katherine Bushby, Professor Patrick Chinnery

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Abstract

We recently described a dominant limb myopathy characterised by early respiratory failure whilst affected individuals were still ambulant (autosomal dominant myopathy with early respiratory failure). Early diagnosis and exclusion of this disorder is difficult because of the insidious onset in late adult life and the highly selective muscle involvement, both clinically and pathologically. We performed muscle magnetic resonance imaging on seven cases of autosomal dominant myopathy with early respiratory failure (age range 37-66 years, 4 male) and show selective early involvement of semitendinosus and obturator externus on magnetic resonance imaging that cannot be detected clinically, with different rates of progression in closely related muscles. These findings are specific to autosomal dominant myopathy with early respiratory failure and enable early non-invasive diagnosis for individuals at risk. © 2005 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Birchall D, Von Der Hagen M, Bates D, Bushby KMD, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2005

Volume: 15

Issue: 9-10

Pages: 595-600

Print publication date: 01/10/2005

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/j.nmd.2005.05.002

DOI: 10.1016/j.nmd.2005.05.002

PubMed id: 16084088

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