November 15, 1999FEBS Letters

Variability in the ratio of mutant to wildtype myosin heavy chain present in the soleus muscle of patients with familial hypertrophic cardiomyopathy. A new approach for the quantification of mutant to wildtype protein

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Population

2 patients with familial hypertrophic cardiomyopathy

Design

Case_series

Authors

VNVolker NierFresenius Medical Care North America (United States)ISImke SchultzMedizinische Hochschule Hannover BBBernhard BrennerFlorida State University

Discussion

Member takes

Implication

Variable mutant beta-MHC fractions in HCM cases should not change practice; leaves open systematic quantification across mutations.

Structured PICO

Population

2 patients with familial hypertrophic cardiomyopathy (one with a Val 606 Met mutation and another with a Gly 584 Arg mutation)

Intervention

Combination of HPLC, mass spectrometry and capillary zone electrophoresis

Outcome

Ratio of mutant to wildtype myosin heavy chain (beta-isoform, beta-MHC) in the soleus musclesurrogate

The study demonstrates significant variability in the ratio of mutant to wildtype myosin heavy chain in patients with familial hypertrophic cardiomyopathy, highlighting the need to quantify this ratio for functional studies.

Cite This Study

Nier et al. (1999) studied this question.

synapsesocial.com/papers/6a7a1c2fbdf697b3de028299 https://doi.org/10.1016/s0014-5793(99)01433-7

Topics

Hypertrophic cardiomyopathy

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Variability in the ratio of mutant to wildtype myosin heavy chain present in the soleus muscle of patients with familial hypertrophic cardiomyopathy. A new approach for the quantification of mutant to wildtype protein

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Topics

Variability in the ratio of mutant to wildtype myosin heavy chain present in the soleus muscle of patients with familial hypertrophic cardiomyopathy. A new approach for the quantification of mutant to wildtype protein

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider