Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
- 13 December 2005
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 88 (1) , 78-85
- https://doi.org/10.1016/j.ymgme.2005.10.008
Abstract
No abstract availableKeywords
This publication has 37 references indexed in Scilit:
- Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathyMolecular Genetics and Metabolism, 2005
- Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathyJournal of the American College of Cardiology, 2004
- Prevalence and Spectrum of Thin Filament Mutations in an Outpatient Referral Population With Hypertrophic CardiomyopathyCirculation, 2003
- Hypertrophic CardiomyopathyCirculation, 2003
- Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathyNature Genetics, 2002
- Structural Analysis of the Titin Gene in Hypertrophic Cardiomyopathy: Identification of a Novel Disease GeneBiochemical and Biophysical Research Communications, 1999
- Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathyNature Genetics, 1997
- Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscleNature Genetics, 1996
- Mutations in the cardiac myosin binding protein–C gene on chromosome 11 cause familial hypertrophic cardiomyopathyNature Genetics, 1995
- A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutationPublished by Elsevier ,1990