Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

Click here for more information

Click here to sign up for SAGE Journal Email Alerts today!
Journal of Child Neurology
This Article
Right arrow Full Text (PDF)
Right arrow References
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
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
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Right arrow Citing Articles via Scopus
Google Scholar
Right arrow Articles by Kim, J. J.
Right arrow Articles by Fishman, M. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kim, J. J.
Right arrow Articles by Fishman, M. A.
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?

Multicore Myopathy, Microcephaly, Aganglionosis, and Short Stature

James J. Kim, MD

Department of Neurology The Children's Medical Center, Dayton, OH

Dawna D. Armstrong, MD

Department of Pathology, Texas Children's Hospital and Baylor College of Medicine, Houston, TX

Marvin A. Fishman, MD

Departments of Neurology, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, Department of Pediatrics Texas Children's Hospital and Baylor College of Medicine, Houston, TX

Multicore myopathy, classified with the benign congenital myopathies, is manifest clinically as proximal muscle weakness, hypotonia, and delayed motor development. We report an unusual case of multicore myopathy with an expanded clinical syndrome involving the central nervous system, as well as additional congenital malformations. Clinical manifestations included microcephaly, mental retardation, spasticity with hyperreflexia, cerebellar dysfunction, short stature, Hirschsprung's disease, pharyngeal web, and facial dysmorphism. (J Child Neurol 1994;9:275-277).

Journal of Child Neurology, Vol. 9, No. 3, 275-277 (1994)
DOI: 10.1177/088307389400900309
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?


This article has been cited by other articles:


Home page
 J. Med. Genet.Home page
J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, S Borrego, A Pelet, S Arnold, X Miao, P Griseri, et al.
Hirschsprung disease, associated syndromes and genetics: a review
J. Med. Genet., January 1, 2008; 45(1): 1 - 14.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J. Amiel and S. Lyonnet
Hirschsprung disease, associated syndromes, and genetics: a review
J. Med. Genet., November 1, 2001; 38(11): 729 - 739.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
D. Greco, C. Romano, and M. Elia
Facial and Skeletal Malformations, Mental Retardation, Aganglionosis, and Neurogenic Muscle Weakness: A Variant of Niikawa-Kuroki Syndrome or a New Syndrome?
J Child Neurol, April 1, 2001; 16(4): 296 - 296.
[Abstract] [PDF]

Home page
 Arch NeurolHome page
P. H. Gordon, A. P. Hays, L. P. Rowland, D. J. Dickoff, D. L. Schotland, R. N. Rosenberg, D. E. Wolfe, D. J. Lange, and R. E. Lovelace
Erroneous Diagnosis Corrected After 28 Years: Not Spinal Muscular Atrophy With Ophthalmoplegia but Minicore Myopathy
Arch Neurol, November 1, 1996; 53(11): 1194 - 1196.
[Abstract] [PDF]

Home page
 J Child NeurolHome page
R. J. Konkol
Is There a Cocaine Baby Syndrome?
J Child Neurol, July 1, 1994; 9(3): 225 - 226.
[PDF]