missense
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Se detectó al menos 1 variante desmosómica patogénica o probablemente patogénica en 26 de los 35 casos índice (74%): 5 nonsense, 14 frameshift, 1 splice y 6 missense. | A pathogenic or probably pathogenic desmosomal mutation was detected in 26 of the 35 index cases (74%): 5 nonsense, 14 frameshift, 1 splice, and 6 missense. |
Se encontraron 19 variantes en BMPR2 (8 de ellas, de tipo missense) en 24 probandos pertenecientes a 20 familias no relacionadas; 2 probandos no relacionados compartían la misma variante (p.Asp491Glu) (tabla 1S del material suplementario). | The 19 BMPR2 variants (8 missense mutations) were found in 24 probands from 20 unrelated families, with 2 unrelated probands showing the same variant (p.Asp491Glu) (Table 1S of the supplementary material). |
Se conocen más de 300 mutaciones en BMPR2, a lo largo de sus 13 exones y 4 dominios proteicos4, 5, la mayoría de ellas (70%) tipo frame-shift, nonsense o deleciones4 y una minoría, tipo missense (30%). | There are more than 300 known mutations in BMPR2 spread throughout its 13 exons and 4 protein domains.4, 5 Most of these mutations (70%) are frameshifts, nonsense mutations, or deletions4; the remainder (30%) are missense mutations. |
Todos los pacientes de nuestra cohorte tienen mutaciones en el gen RyR2, y el análisis de las AV y la ventana arrítmica en las PE antes y después de agegar la flecainida al tratamiento se realizó principalmente en la familia 1, con mutación missense en heterocigosis Gly357Ser. | All patients in our cohort had mutations in the RyR2 gene, and analysis of VAs and the arrhythmic window in ETs before and after the addition of flecainide was largely performed in family 1, whose members have a heterozygous missense mutation in Gly357Ser. |
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