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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2005-6-29
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pubmed:abstractText |
The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
28
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pubmed:volume |
64
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2129-31
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:15985586-Adult,
pubmed-meshheading:15985586-Afferent Pathways,
pubmed-meshheading:15985586-Age of Onset,
pubmed-meshheading:15985586-Amino Acid Substitution,
pubmed-meshheading:15985586-Ataxia,
pubmed-meshheading:15985586-Cerebellar Diseases,
pubmed-meshheading:15985586-Cerebellum,
pubmed-meshheading:15985586-Chromosome Disorders,
pubmed-meshheading:15985586-DNA Mutational Analysis,
pubmed-meshheading:15985586-Genes, Recessive,
pubmed-meshheading:15985586-Genetic Testing,
pubmed-meshheading:15985586-Heat-Shock Proteins,
pubmed-meshheading:15985586-Humans,
pubmed-meshheading:15985586-Japan,
pubmed-meshheading:15985586-Male,
pubmed-meshheading:15985586-Muscle Spasticity,
pubmed-meshheading:15985586-Mutation, Missense,
pubmed-meshheading:15985586-Peripheral Nerves,
pubmed-meshheading:15985586-Phenotype
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pubmed:year |
2005
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pubmed:articleTitle |
A phenotype without spasticity in sacsin-related ataxia.
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pubmed:affiliation |
Department of Neurology, Jichi Medical School, Tochigi 329-0498, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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