Titre :
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Genetic screening and tissue expression of KCNE3 do not support the association of R83H-MirP2 variant with periodic paralysis (abstract : congrès international de Myologie, 2005)
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contenu dans :
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Auteurs :
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Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ;
Luce S ;
Sternberg D ;
Fontaine B ;
Tabti N
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Type de document :
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Article
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Année de publication :
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2005
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Pages :
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p. 270
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Langues:
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Anglais
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Mots-clés :
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canal calcium
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canal ionique voltage-dépendant
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canal potassium
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canal sodium
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colloque
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expression génique
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gène KCNE3
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humain
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muscle squelettique
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paralysie périodique
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paralysie périodique familiale avec mutation du gène KCNE3
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potassium
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souris
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Résumé :
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Communication n° 395 Periodic paralysis are inherited skeletal muscle disorders caused by missense mutations of genes encoding the ? subunits of the skeletal muscle voltage-gated Na+ or Ca2+ channels. A missense variant of KCNE3 gene encoding a K+ channel-associated peptide, Mink Related Peptide 2 (MirP2) has been lately reported in periodic paralysis patients (Abbott et al., 2001). We performed genetic screening of a large group of patients with periodic paralysis and over 500 controls. Our data revealed no difference in the frequency of the MirP2-R83H variant between patients with periodic paralysis and healthy individuals. In addition, there was no segregation of this gene variant with the disease. In a separate study, we used reverse transcription polymerase chain reaction (RT-PCR) to look for KCNE3 gene expression in muscle cell lines and various mouse and human tissues. MirP2 transcripts were predominantly found in the colon but remained undetectable in the adult skeletal muscle tissue. Taken together, these results speak against a causative role for MirP2-R83H in periodic paralyses.
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