| Clinical and molecular genetic features of congenital spinal muscular atrophy. | |
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MedLine Citation:
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PMID: 8957014 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A neonate presented with the fetal hypokinesia sequence and signs of spinal muscular atrophy (SMA). Severe pathological changes including ballooned neurons and neuronophagia were found not only in the motor nerve nuclei but also in the thalamic, cerebellar, and brainstem nuclei as well as in the dorsal root ganglia. Direct DNA analysis showed the presence of a chimeric SMN gene, with a rearrangement occurring between exon 7 of the centromeric SMN gene and exon 8 of the telomeric SMN gene. Circumstantial evidence suggests that only a single copy of this gene is present, with transcriptional characteristics of a centromeric SMN gene. In addition, a homozygous deletion in the NAIP genes was demonstrated. This observation demonstrates that at least some cases with fetal hypokinesia and SMA may represent the severe end of a spectrum of disorders caused by deletions in the SMA locus on chromosome 5q13. In addition, these findings are compatible with a modifying role for the centromeric SMN genes and the NAIP genes in the severity of the SMA phenotype. |
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Authors:
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K Devriendt; M Lammens; E Schollen; C Van Hole; R Dom; H Devlieger; J J Cassiman; J P Fryns; G Matthijs |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Annals of neurology Volume: 40 ISSN: 0364-5134 ISO Abbreviation: Ann. Neurol. Publication Date: 1996 Nov |
Date Detail:
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Created Date: 1997-01-23 Completed Date: 1997-01-23 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 7707449 Medline TA: Ann Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 731-8 Citation Subset: IM |
Affiliation:
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Center for Human Genetics, University Hospital Leuven, Belgium. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Autoantigens
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biosynthesis,
genetics Brain / pathology* Brain Stem / pathology Centromere Cerebellum / pathology Chimera Chromosome Mapping Chromosomes, Human, Pair 5* DNA Primers Electromyography Exons Female Ganglia, Spinal / pathology Gene Deletion Humans Infant, Newborn Male Motor Neurons / pathology Nerve Tissue Proteins / genetics* Neuronal Apoptosis-Inhibitory Protein Neurons / pathology Pedigree Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational* Ribonucleoproteins, Small Nuclear* Spinal Muscular Atrophies of Childhood / genetics*, pathology* Thalamic Nuclei / pathology Thalamus / pathology Transcription, Genetic snRNP Core Proteins |
| Chemical | |
Reg. No./Substance:
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0/Autoantigens; 0/DNA Primers; 0/NAIP protein, human; 0/Nerve Tissue Proteins; 0/Neuronal Apoptosis-Inhibitory Protein; 0/Ribonucleoproteins, Small Nuclear; 0/SNRPN protein, human; 0/snRNP Core Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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