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Journal of Child Neurology
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Article

Histopathologic Progression and a Novel Mutation in a Child With Nemaline Myopathy

Shafeeq Ladha, MD1*, Stephen Coons, MD2, Stanley Johnsen, MD3, Nyamkhishig Sambuughin, PhD4, Ricardo Bien-Wilner, BSc5, and Kumaraswamy Sivakumar, MD1

1 Neuromuscular Research Center, Scottsdale, and Division of Neurology, Barrow Neurological Institute, Phoenix, Arizona
2 Division of Neuropathology, Barrow Neurological Institute, Phoenix, Arizona
3 Division of Child Neurology, Barrow Neurological Institute, Phoenix, AZ
4 Uniformed Services University of the Health Sciences, Bethesda, Maryland
5 Neuromuscular Research Center, Scottsdale, Arizona

* To whom correspondence should be addressed. E-mail: shafeeq.ladha{at}chw.edu.


  Abstract
Nemaline myopathy is a clinically heterogeneous congenital myopathy caused by mutations in at least 6 genes related to thin filaments. Histologically, they show a characteristic if not homogeneous picture of nemaline rods, essential for the diagnosis. However, little is known regarding the development and progression of muscle histopathologic changes in nemaline myopathy. Results of muscle biopsies at 7 weeks of age and at 15 months of age from a child with nemaline myopathy due to a novel mutation in the ACTA1 gene are presented. The findings of the biopsies, separated by 13 months, demonstrate progression from vague cytoplasmic bodies in the first biopsy to typical nemaline rods in the second biopsy.

First published on May 16, 2008, doi:10.1177/0883073808314363

Journal of Child Neurology 2008;23:813.

A more recent version of this article appeared on July 1, 2008

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