2005
DOI: 10.1007/s00109-005-0635-7
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Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy

Abstract: Hypertrophic cardiomyopathy (HCM) is a frequent, autosomal-dominant cardiac disease and manifests predominantly as left ventricular hypertrophy. Mutations in the cardiac beta-myosin heavy chain gene (MYH7) are responsible for the disease in about 30% of cases where mutations were identified. We clinically evaluated a large group of 147 consecutive HCM patients from three cardiology centers in Germany, Poland, and Kyrgyzstan according to the same protocol. The DNA of the patients was systematically analyzed in … Show more

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Cited by 53 publications
(15 citation statements)
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“…This suggests that reducing the helical content could contribute to a decreased ability of these mutant isoforms to incorporate normally into thick filaments and an increased chance that the mutant myosin forms aggregates outside the muscle sarcomeres. This may explain why all three of these mutations result in a more severe form of HCM (supplemental Table S1) (18,20). The nonincorporated aggregated myosin may be proteotoxic, supporting the recently suggested idea that protein misfolding is a major contributor to hypertrophic cardiomyopathy (40).…”
Section: Discussionmentioning
confidence: 56%
See 1 more Smart Citation
“…This suggests that reducing the helical content could contribute to a decreased ability of these mutant isoforms to incorporate normally into thick filaments and an increased chance that the mutant myosin forms aggregates outside the muscle sarcomeres. This may explain why all three of these mutations result in a more severe form of HCM (supplemental Table S1) (18,20). The nonincorporated aggregated myosin may be proteotoxic, supporting the recently suggested idea that protein misfolding is a major contributor to hypertrophic cardiomyopathy (40).…”
Section: Discussionmentioning
confidence: 56%
“…To test this idea, we investigated five different mutations that result in HCM (15)(16)(17)(18)(19)(20)(21) and one (R1500W) that causes DCM (17). Only two of these mutations have been investigated previously (E1356K and R1500W (22,23)).…”
mentioning
confidence: 99%
“…Mutation V606M: Soleus biopsies were available from a British individual (H5; [45]) and from an unrelated American individual (H6; [12]. Mutation I736T: We obtained soleus biopsies from three siblings of a Kyrgyz family (Caucasian origin; [30]), one male (H18, Family A, II-2) and two females (H19, Family A, II-4 and H20, Family A, II-7) with moderate left ventricular and septal hypertrophy (14, 18, 17 mm, for H18, H19 and H20, respectively) and pathological ECGs. Mutation G584R: The biopsy was from a young British male [45].…”
Section: Methodsmentioning
confidence: 99%
“…The symptoms displayed range from asymptomatic carrier status through to dizziness, palpitations, syncope and SCD. The age of onset also varies; some patients are diagnosed close to birth [5,6], while others remain asymptomatic until their third, fourth or even seventh decade [7,8,9]. There are 4 recognised classes of cardiomyopathy: hypertrophic, dilated, restrictive and arrhythmogenic right ventricular [4].…”
Section: Introductionmentioning
confidence: 99%