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rdf:type |
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lifeskim:mentions |
umls-concept:C0002317,
umls-concept:C0007194,
umls-concept:C0018787,
umls-concept:C0026882,
umls-concept:C0027096,
umls-concept:C0031437,
umls-concept:C0032854,
umls-concept:C0033325,
umls-concept:C0041199,
umls-concept:C0205161,
umls-concept:C0205314,
umls-concept:C0332281,
umls-concept:C0547040,
umls-concept:C0679622,
umls-concept:C1314792,
umls-concept:C1516144,
umls-concept:C1561558
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pubmed:issue |
1
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pubmed:dateCreated |
2001-1-9
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pubmed:abstractText |
We report hypertrophic cardiomyopathy (HCM) in a Spanish-American family caused by a novel alpha-tropomyosin (TPM1) mutation and examine the pathogenesis of the clinical disease by characterizing functional defects in the purified mutant protein.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1524-4539
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pubmed:author |
pubmed-author:AraiA EAE,
pubmed-author:BachinskiL LLL,
pubmed-author:BackNN,
pubmed-author:ButtersCC,
pubmed-author:FananapazirLL,
pubmed-author:HomsherEE,
pubmed-author:KaribeAA,
pubmed-author:OrtizAA,
pubmed-author:RobertiDD,
pubmed-author:StraniGG,
pubmed-author:TobacmanL SLS
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pubmed:issnType |
Electronic
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pubmed:day |
2
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pubmed:volume |
103
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
65-71
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:11136687-Adult,
pubmed-meshheading:11136687-Amino Acid Substitution,
pubmed-meshheading:11136687-Ca(2+) Mg(2+)-ATPase,
pubmed-meshheading:11136687-Calcium,
pubmed-meshheading:11136687-Cardiomyopathy, Hypertrophic,
pubmed-meshheading:11136687-DNA Mutational Analysis,
pubmed-meshheading:11136687-Death, Sudden, Cardiac,
pubmed-meshheading:11136687-Female,
pubmed-meshheading:11136687-Genetic Linkage,
pubmed-meshheading:11136687-Genetic Testing,
pubmed-meshheading:11136687-Hispanic Americans,
pubmed-meshheading:11136687-Humans,
pubmed-meshheading:11136687-Hypertrophy, Left Ventricular,
pubmed-meshheading:11136687-Incidence,
pubmed-meshheading:11136687-Lod Score,
pubmed-meshheading:11136687-Male,
pubmed-meshheading:11136687-Mutation, Missense,
pubmed-meshheading:11136687-Myosins,
pubmed-meshheading:11136687-Pedigree,
pubmed-meshheading:11136687-Penetrance,
pubmed-meshheading:11136687-Phenotype,
pubmed-meshheading:11136687-Prognosis,
pubmed-meshheading:11136687-Survival Rate,
pubmed-meshheading:11136687-Tropomyosin,
pubmed-meshheading:11136687-Troponin
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pubmed:year |
2001
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pubmed:articleTitle |
Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis.
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pubmed:affiliation |
Department of Medicine, Baylor College of Medicine, Houston, TX, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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