| Phenotypic and genotypic heterogeneity of dominantly inherited amyotrophic lateral sclerosis. | |
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MedLine Citation:
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PMID: 3591277 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Twenty-seven cases of hereditary amyotrophic lateral sclerosis (ALS), belonging to 8 families, are reported. The analysis of the pedigrees suggests an autosomal dominant transmission, apparently with incomplete penetration. The mean age at onset of symptoms was 50.3 (SD 12.4) years. The mean duration of the disease was 31.2 (SD 20.4) months, ranging from 9 to 86. The median survival time was 24 months. The degree of variation of some quantitative characters, both within and among families, was statistically analyzed. The results support the hypothesis of a phenotypic and genetic heterogeneity of autosomal dominant transmitted ALS. |
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Authors:
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A Chio; F Brignolio; P Meineri; D Schiffer |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Acta neurologica Scandinavica Volume: 75 ISSN: 0001-6314 ISO Abbreviation: Acta Neurol. Scand. Publication Date: 1987 Apr |
Date Detail:
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Created Date: 1987-07-09 Completed Date: 1987-07-09 Revised Date: 2006-08-16 |
Medline Journal Info:
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Nlm Unique ID: 0370336 Medline TA: Acta Neurol Scand Country: DENMARK |
Other Details:
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Languages: eng Pagination: 277-82 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Amyotrophic Lateral Sclerosis / genetics* Female Genes, Dominant Genotype Humans Male Middle Aged Pedigree Phenotype Sex Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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