Journal of Child Neurology

 

Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

Click here for free access to the SAGE eReference platform!

Sign In to gain access to subscriptions and/or personal tools.
This Article
Right arrow Full Text (OnlineFirst PDF)
Right arrow All Versions of this Article:
0883073808314363v1
23/7/813    most recent
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Google Scholar
Right arrow Articles by Ladha, S.
Right arrow Articles by Sivakumar, K.
PubMed
Right arrow PubMed Citation
Right arrow Articles by Ladha, S.
Right arrow Articles by Sivakumar, K.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?
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

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.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?