A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects
Background Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects. Methods In this study, we describe a mutation in the MYH7 gene, c. 5754C > G; p. (Asn1918Lys), present in 15 probands and 65 family members. Results Of the 80 carriers (age range 0-88 years), 46 (57.5%) had cardiomyopathy (mainly dilated cardiomyopathy (DCM)) and seven (8.8%) had a congenital heart defect. Childhood onset of cardiomyopathy was present in almost 10% of carriers. However, in only a slight majority (53.7%) was the left ven... Mehr ...
Verfasser: |
van der Linde, I. H. M.
Hiemstra, Y. L.
Bokenkamp, R.
van Mil, A. M.
Breuning, M. H.
Ruivenkamp, C.
ten Broeke, S. W.
Veldkamp, R. F.
van Waning, J. I.
van Slegtenhorst, M. A.
van Spaendonck-Zwarts, K. Y.
Deprez, R. H. Lekanne
Herkert, J. C.
Boven, L.
van der Zwaag, P. A.
Jongbloed, J. D. H.
Bootsma, M.
Barge-Schaapveld, D. Q. C. M. |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2017 |
Reihe/Periodikum: |
van der Linde , I H M , Hiemstra , Y L , Bokenkamp , R , van Mil , A M , Breuning , M H , Ruivenkamp , C , ten Broeke , S W , Veldkamp , R F , van Waning , J I , van Slegtenhorst , M A , van Spaendonck-Zwarts , K Y , Deprez , R H L , Herkert , J C , Boven , L , van der Zwaag , P A , Jongbloed , J D H , Bootsma , M & Barge-Schaapveld , D Q C M 2017 , ' A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects ' , Netherlands Heart Hournal , vol. 25 , no. 12 , pp. 675-681 . https://doi.org/10.1007/s12471-017-1037-5 |
Schlagwörter: |
Founder mutation
/ Cardiomyopathy
/ Congenital heart defect
/ Beta myosin heavy chain 7
/ LEFT-VENTRICULAR NONCOMPACTION
/ BICUSPID AORTIC-VALVE
/ HYPERTROPHIC CARDIOMYOPATHY
/ GENOTYPE-PHENOTYPE
/ DIAGNOSTICS
/ DISEASE
/ GENES |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-27059629 |
Datenquelle: |
BASE;
Originalkatalog |
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Link(s) :
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https://hdl.handle.net/11370/ceab73d0-99da-4e78-8ec5-d6946a037404 |