Linked Life Data

20192886

Source:http://linkedlifedata.com/resource/pubmed/id/20192886

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2010-9-15
pubmed:abstractText
We describe a patient with apparently sporadic amyotrophic lateral sclerosis (SALS) with a novel g > c point mutation at position 382 in the SOD1 gene, leading to a substitution of glycine for arginine in amino acid position 127 (G127R). The disease presented with flaccid leg paresis, and progressed rapidly with generalized paresis resulting in respiratory failure after seven months. In addition to a predominating lower motor neuron syndrome, the phenotype was characterized by a severe lower back and leg pain syndrome which was treated successfully with spinal anaesthesia.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1471-180X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
11
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
478-80
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
G127R: A novel SOD1 mutation associated with rapidly evolving ALS and severe pain syndrome.
pubmed:affiliation
Department of Neurology, Oslo University Hospital Ullevål, Norway. trygve.holmoy@rr-research.no
pubmed:publicationType
Journal Article, Case Reports