| Myotonic dystrophy in a large Sicilian kinship: a case report. | |
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MedLine Citation:
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PMID: 7585681 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A large Sicilian kinship in which myotonic dystrophy (DM) affected spanning four generations is presented. The pedigree clearly illustrates the phenomenon of anticipation, and illustrates that this phenomenon is more marked when transmission occurs through an affected female rather than an affected male. The pedigree is interpreted in light of recent genetic advances in DM. Neurosurgeons and neurologists should consider a diagnosis of DM when asked to evaluate a floppy infant with enlarged lateral ventricles, and should be aware of special features regarding its inheritance pattern. |
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Authors:
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R Trifiletti; E Parano; R Falsaperla; G Incorpora |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery Volume: 11 ISSN: 0256-7040 ISO Abbreviation: Childs Nerv Syst Publication Date: 1995 Aug |
Date Detail:
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Created Date: 1995-12-22 Completed Date: 1995-12-22 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8503227 Medline TA: Childs Nerv Syst Country: GERMANY |
Other Details:
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Languages: eng Pagination: 453-5 Citation Subset: IM |
Affiliation:
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Department of Neurology, Neuroscience and Pediatrics, Cornell University Medical College, New York, NY 10021, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Atrophy Brain / pathology Cerebral Ventricles / pathology Child, Preschool Female Follow-Up Studies Humans Infant Magnetic Resonance Imaging Male Myotonic Dystrophy / diagnosis, genetics* Neurologic Examination Pedigree Phenotype Sicily |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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