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rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0011071,
umls-concept:C0012634,
umls-concept:C0015576,
umls-concept:C0026882,
umls-concept:C0205282,
umls-concept:C0205329,
umls-concept:C0376315,
umls-concept:C0457405,
umls-concept:C0547040,
umls-concept:C0678227,
umls-concept:C0686353,
umls-concept:C1413745,
umls-concept:C1416877
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|
pubmed:issue |
1
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|
pubmed:dateCreated |
2007-7-26
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|
pubmed:abstractText |
Lamin proteins A and C are major functional and structural components of the nuclear lamina. Mutations of the LMNA gene have been associated with dilated cardiomyopathy, conduction system defects and skeletal muscle dystrophy simultaneously, in variable involvement. We report on a family with a mutation of the lamin A/C gene (c.908-909delCT).
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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 |
Jun
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pubmed:issn |
1383-875X
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
19
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1-7
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:17605093-Adult,
pubmed-meshheading:17605093-Cardiomyopathy, Dilated,
pubmed-meshheading:17605093-Death, Sudden,
pubmed-meshheading:17605093-Electrocardiography,
pubmed-meshheading:17605093-Female,
pubmed-meshheading:17605093-Genes, Dominant,
pubmed-meshheading:17605093-Genetic Linkage,
pubmed-meshheading:17605093-Humans,
pubmed-meshheading:17605093-Lamin Type A,
pubmed-meshheading:17605093-Lod Score,
pubmed-meshheading:17605093-Male,
pubmed-meshheading:17605093-Middle Aged,
pubmed-meshheading:17605093-Muscular Dystrophies, Limb-Girdle,
pubmed-meshheading:17605093-Mutation,
pubmed-meshheading:17605093-Phenotype
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pubmed:year |
2007
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pubmed:articleTitle |
Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.
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pubmed:affiliation |
Department of Cardiology, Nicosia General Hospital, Nicosia, Cyprus.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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