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Rod Distribution and Muscle Fiber Type Modification in the Progression of Nemaline Myopathy

Department of Neurology School of Medicine, University of São Paulo, São Paulo, Brazil

Sueli K. Marie, MD, PhD

Department of Neurology School of Medicine, University of São Paulo, São Paulo, Brazil

Edmar Zanoteli, MD, PhD

Department of Neurology UNIFESP-EPM São Paulo, Brazil

Moacir A. T. Fireman, MD, PhD

Department of Neurology UNIFESP-EPM São Paulo, Brazil

Acary S. B. Oliveira, MD, PhD

Department of Neurology UNIFESP-EPM São Paulo, Brazil

Lineu C. Werneck, MD, PhD

Neurology Division Internal Medicine Department Hospital de Clínicas Universidade Federal do Paraná Curitiba, Brazil

Alan H. Beggs, PhD

Division of Genetics Children's Hospital Harvard Medical School Boston, Massachusetts, USA

Mayana Zatz, PhD

Centro de Estudos do Genoma Humano Department of Biology, IB University of São Paulo, São Paulo

Mariz Vainzof, PhD

Centro de Estudos do Genoma Humano Department of Biology, IB University of São Paulo, São Paulo, Brazil, mvainzof{at}usp.br.

Nemaline myopathy is a structural congenital myopathy associated with the presence of rodlike structures inside the muscle fibers and type I predominance. It may be caused by mutations in at least five genes: slow -tropomyosin 3 (chromosome 1q22-23), nebulin (chromosome 2q21.1-q22), actin (chromosome 1q42), tropomyosin 2 (chromosome 9p13), and troponin T1 (chromosome 19ql3.4).The effect of these mutations in the expression of the protein and the mechanism of rod formation is still under investigation. We analyzed the possibility of progressive alterations with time and/or disease evolution, such as transformation of type I to type II fiber and rod pattern and distribution in muscle fibers from patients with nemaline myopathy, through a morphometric and immunohistochemical analysis of different muscle protein isoforms. A tendency of diffuse rods to be organized in the subsarcolemmal region was observed in two patients who were submitted to subsequent biopsies after 10 and 13 years. Additionally, we observed the expression of type II protein isoforms in type I fibers and a higher proportion of type II fibers in the younger patient of a pair of affected sibs, giving further support to the hypothesis of progressive conversion of type II to type I fibers in nemaline myopathy. (J Child Neurol 2003;18:235—240).

Journal of Child Neurology, Vol. 18, No. 3, 235-240 (2003)
DOI: 10.1177/08830738030180031501


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