Familial-genetic dilated cardiomyopathy (Q42357): Difference between revisions
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Cardiomiopatia dilatada genética familiar é a presença de cardiomiopatia dilatada que está presente em vários membros de uma linhagem, ou na presença de uma mutação genética conhecida por estar significativamente associada a cardiomiopatia dilatada. _x000D_ _x000D_ Informações adicionais: Genes candidatos do citoesqueleto e codificadores do disco Z, a maioria dos quais são aventados como responsáveis por anormalidades na transmissão de força, incluem δ-sarcoglicano, β-sarcoglicano, desmina, lamina A / C, metavinculina, proteína LIM muscular, titina, α -actinina-2, nebuleta, miopaladina e ZASP (proteína de domínio PDZ com “splicing” alternativo de banda Z) | |||
| description / en | description / en | ||
Familial-genetic dilated cardiomyopathy is the presence of dilated cardiomyopathy that is present in multiple members of a pedigree, or in the presence of a genetic mutation known to be significantly associated with dilated cardiomyopathy. Additional information: Candidate cytoskeletal and Z disk–encoding genes, most of whom are hypothesized to lead to abnormalities in force transmission, include δ-sarcoglycan, β-sarcoglycan, desmin, lamin A/C, metavinculin, muscle LIM protein, titin, α-actinin-2, nebulette, myopalladin, and ZASP (Z band alternatively spliced PDZ domain protein) | |||
Revision as of 08:50, 13 August 2026
Familial-genetic dilated cardiomyopathy is the presence of dilated cardiomyopathy that is present in multiple members of a pedigree, or in the presence of a genetic mutation known to be significantly associated with dilated cardiomyopathy. Additional information: Candidate cytoskeletal and Z disk–encoding genes, most of whom are hypothesized to lead to abnormalities in force transmission, include δ-sarcoglycan, β-sarcoglycan, desmin, lamin A/C, metavinculin, muscle LIM protein, titin, α-actinin-2, nebulette, myopalladin, and ZASP (Z band alternatively spliced PDZ domain protein)
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | BC43.00 |
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| English | Familial-genetic dilated cardiomyopathy |
Familial-genetic dilated cardiomyopathy is the presence of dilated cardiomyopathy that is present in multiple members of a pedigree, or in the presence of a genetic mutation known to be significantly associated with dilated cardiomyopathy. Additional information: Candidate cytoskeletal and Z disk–encoding genes, most of whom are hypothesized to lead to abnormalities in force transmission, include δ-sarcoglycan, β-sarcoglycan, desmin, lamin A/C, metavinculin, muscle LIM protein, titin, α-actinin-2, nebulette, myopalladin, and ZASP (Z band alternatively spliced PDZ domain protein) |
