Document Detail

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion.
MedLine Citation:
PMID:  1719916     Owner:  NLM     Status:  MEDLINE    
We have evaluated a young woman with segmental spinal muscular atrophy, who has a deletion of a portion of the long arm of chromosome 18. She also has vitiligo and lichen sclerosis et atrophicus. She has neither the facial dysmorphism nor the mental deficit usually associated with the 18q- syndrome. Magnetic resonance imaging scan of her brain demonstrates high signal intensity consistent with abnormal myelination. Southern blot analysis of her DNA demonstrates that the deletion includes the gene for human myelin basic protein. Neither spinal muscular atrophy nor this patient's skin manifestations have been previously reported in association with 18q-.
B J Weiss; J Kamholz; A Ritter; E H Zackai; D M McDonald-McGinn; B Emanuel; K H Fischbeck
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of neurology     Volume:  30     ISSN:  0364-5134     ISO Abbreviation:  Ann. Neurol.     Publication Date:  1991 Sep 
Date Detail:
Created Date:  1991-12-04     Completed Date:  1991-12-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  419-23     Citation Subset:  IM    
Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia 19104-6146.
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MeSH Terms
Brain Diseases / diagnosis
Chromosome Deletion*
Chromosomes, Human, Pair 18*
DNA / analysis
Magnetic Resonance Imaging
Muscular Atrophy, Spinal / complications,  genetics*
Myelin Basic Proteins / genetics
Scleroderma, Localized / complications*
Vitiligo / complications*
Reg. No./Substance:
0/Myelin Basic Proteins; 9007-49-2/DNA

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