Document Detail


Congenital myopathy with ringlike distribution of myonuclei and mitochondria and accumulation of nemaline rods. A variant of centronuclear myopathy?
MedLine Citation:
PMID:  7546014     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Histopathologic and ultrastructural findings in a muscle biopsy performed on an 11-year old boy with congenital hypotonia, weakness, respiratory insufficiency requiring chronic ventilatory support, and a probable X-linked inheritance are presented. The muscle biopsy disclosed a peculiar, ringlike arrangement of mitochondria and myonuclei in most muscle fibers. Accumulations of nemaline rods were present in approximately 10-15% of fibers. We believe that our patient represents a variant of myotubular/centronuclear myopathy. The histochemical findings suggest disturbance in developmental migration of nuclei and mitochondria probably due to impaired function of the cytoskeleton.
Authors:
A J Waclawik; T S Edgar; B P Lotz; P Lewandoski; R S Rust
Related Documents :
6251174 - A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and in...
16003294 - High-dose statins and skeletal muscle metabolism in humans: a randomized, controlled tr...
2118384 - Oxidative phosphorylation in human muscle in patients with ocular myopathy and after ge...
10567074 - Muscle disorders associated with cyclosporine treatment.
21695794 - Advanced maturation by electrical stimulation: differences in response between c2c12 an...
11417794 - Sequential recovery of sensitivity to negative and positive contrasts during optic nerv...
Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric neurology     Volume:  12     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  1995 May 
Date Detail:
Created Date:  1995-11-13     Completed Date:  1995-11-13     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  370-3     Citation Subset:  IM    
Affiliation:
Department of Neurology, University of Wisconsin Medical School, Madison, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Biopsy
Cell Nucleus / pathology*
Child
Humans
Male
Mitochondrial Myopathies / congenital*,  pathology
Myopathies, Nemaline / pathology*
Pedigree

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Spinal muscular atrophy with oculomotor palsy, epilepsy, and cerebellar hypoperfusion.
Next Document:  Stimulation of group II phospholipase A2 mRNA expression and release in an immortalized astrocyte ce...