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Lookup NU author(s): Professor Hanns Lochmuller
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We evaluated muscle biopsies from 57 patients with genetically confirmed myotonic dystrophy type 2/proximal myotonic myopathy (DM2/PROMM). Light microscopy showed myopathic together with "denervation-like" changes in almost all biopsies obtained from four different muscles: increased fiber size variation, internal nuclei, small angulated fibers, pyknotic nuclear clumps, and predominant type 2 fiber atrophy. Quantitative morphometry in 18 biopsies that were immunostained for myosin heavy chain confirmed a predominance of nonselective type 2 fiber atrophy. These histological changes were similar in all patients regardless of the site of biopsy, the predominant clinical symptoms and signs, and the clinical course. It is likely that, in a number of undiagnosed patients, DM2 is the underlying disorder. With a better understanding of the histopathological pattern in DM2, biopsies from patients with undiagnosed neuromuscular disorders can now be reevaluated.
Author(s): Schoser BG, Schneider-Gold C, Kress W, Goebel HH, Reilich P, Koch MC, Pongratz DE, Toyka KV, Lochmuller H, Ricker K
Publication type: Article
Publication status: Published
Journal: Muscle & Nerve
Year: 2004
Volume: 29
Issue: 2
Pages: 275-281
ISSN (print): 0148-639X
ISSN (electronic): 1097-4598
Publisher: John Wiley & Sons, Inc.
URL: http://dx.doi.org/10.1002/mus.10545
DOI: 10.1002/mus.10545
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