Linked Life Data

15889278

Source:http://linkedlifedata.com/resource/pubmed/id/15889278

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2005-7-26
pubmed:abstractText
A male infant with clinical features of Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy is reported. He manifested severe heart failure and failure to thrive. Administration of propranolol and cibenzoline improved ventricular outflow tract obstruction, leading to catch-up growth. Genetic analysis of the patient revealed a novel missense mutation in the PTPN11 gene. CONCLUSION: This is the first description of a patient with a Gln510Glu mutation in the protein-tyrosine phosphatase, non-receptor type 11 gene. This specific mutation may be associated with a rapidly progressive hypertrophic cardiomyopathy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
164
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
497-500
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed-meshheading:15889278-Cardiomyopathy, Hypertrophic, pubmed-meshheading:15889278-Cardiovascular Agents, pubmed-meshheading:15889278-Chromosomes, Human, Pair 12, pubmed-meshheading:15889278-Drug Therapy, Combination, pubmed-meshheading:15889278-Glutamic Acid, pubmed-meshheading:15889278-Glutamine, pubmed-meshheading:15889278-Humans, pubmed-meshheading:15889278-Imidazoles, pubmed-meshheading:15889278-Infant, pubmed-meshheading:15889278-Intracellular Signaling Peptides and Proteins, pubmed-meshheading:15889278-Male, pubmed-meshheading:15889278-Mutation, Missense, pubmed-meshheading:15889278-Noonan Syndrome, pubmed-meshheading:15889278-Propranolol, pubmed-meshheading:15889278-Protein Tyrosine Phosphatase, Non-Receptor Type 11, pubmed-meshheading:15889278-Protein Tyrosine Phosphatases, pubmed-meshheading:15889278-Treatment Outcome
pubmed:year
2005
pubmed:articleTitle
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
pubmed:affiliation
Department of Developmental Medicine (Paediatrics), Osaka University Graduate School of Medicine, 2-2 Yamada-oka, 565-0871 Suita, Osaka, Japan.
pubmed:publicationType
Journal Article, Case Reports