Results 161 to 170 of about 13,305 (193)

MYH7 mutation associated with two phenotypes of myopathy

Neurological Sciences, 2017
The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD).
Nan Li, Zhe Zhao, Hongrui Shen, Qi Bing, Xuan Guo, Jing Hu   +5 more
openaire   +2 more sources

A MYH7 Variant in a Five-Generation-Family With Hypertrophic Cardiomyopathy

Frontiers in Genetics
Background: Hypertrophic cardiomyopathy (HCM) is a genetic condition with a prevalence of 1:500–1:3 000. Variants in genes encoding sarcomeric proteins are mainly responsible for the disease. MYH7 gene encoding a myosin heavy chain beta, together with MYPBC3 gene are the two most commonly affected genes. The clinical presentation of this disease varies
Grażyna T Truszkowska, Urszula Demkow, Zofia Bilińska   +2 more
exaly   +4 more sources

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

Human Mutation, 2014
Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/β-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy.
Nigel G Laing, Alan H. Beggs, Juan J. Vílchez   +2 more
exaly   +2 more sources

Electrophysiological Characterization of a MYH7 Variant with Tremor Phenotype

Movement Disorders Clinical Practice, 2023
AbstractBackgroundThe concept of a myopathy with associated tremor (“myogenic tremor”) in humans has been previously described for specific MYBPC1 (Myosin‐Binding Protein C) variants. Here we report for the first time an individual with tremor who was found to have a de‐novo likely pathogenic variant in Myosin Heavy Chain 7 (MYH7).We provide a detailed
Felipe Vial, Patrick McGurrin, Thomas Osterholt, Debra J. Ehrlich, Susan T. Iannacone, Sandra Donkervoort, Sarah B. Neuhaus, Katherine C. Chao, Carsten G. Bönnemann, Dietrich Haubenberger, Mark Hallett   +10 more
openaire   +2 more sources

Attenuation of Cardiomyocyte Hypertrophy via Depletion Myh7 using CASAAV

Cardiovascular Toxicology, 2020
Myh7 is a classic biomarker for cardiac remodeling and a potential target to attenuate cardiomyocyte (CM) hypertrophy. This study aimed to identify the dominant function of Myh7 after birth and determine whether its removal would affect CM maturation or contribute to reversal of pathological hypertrophy phenotypes.
Peng Yue, Shutao Xia, Gang Wu, Lei Liu, Kaiyu Zhou, Hongyu Liao, Jiawen Li, Xiaolan Zheng, Yuxuan Guo, Yimin Hua, Donghui Zhang, Yifei Li   +11 more
openaire   +2 more sources

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy

Neurology, 2007
Myosin storage myopathy (MSM) associated with mutations in MYH7 encoding for slow/β-cardiac myosin heavy chain (MyHC) occurs sporadically or shows autosomal dominant inheritance.1–4 MSM is usually associated with severe skeletal muscle weakness, but cardiomyopathy is typically not present.
Homa, Tajsharghi, Anders, Oldfors, Dominic P, Macleod, Michael, Swash   +3 more
openaire   +2 more sources

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy

Neuromuscular Disorders, 2011
A 25-year-old woman had childhood-onset muscle weakness and dilated cardiomyopathy. She exhibited predominantly distal weakness with early toe walking. Dilated cardiomyopathy required cardiac transplantation at age 15 years. We identified a de-novo, heterozygous, missense mutation, c.2348G>C (p.
Houman, Homayoun, Simin, Khavandgar, Jacqueline M, Hoover, Al-Walid, Mohsen, Jerry, Vockley, David, Lacomis, Paula R, Clemens   +6 more
openaire   +2 more sources

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

Neuromuscular Disorders, 2013
Laing distal myopathy (LDM) is caused by mutations in the MYH7 gene, and known to have muscle weakness of distal limbs and neck flexors. Through whole exome sequencing, we identified a novel p.Ala1439Pro MYH7 mutation in a Korean LDM family. This missense mutation is located in more N-terminal than any reported rod domain LDM mutations.
Jin-Mo, Park, Ye Jin, Kim, Jeong Hyun, Yoo, Young Bin, Hong, Ji Hoon, Park, Heasoo, Koo, Ki Wha, Chung, Byung-Ok, Choi   +7 more
openaire   +2 more sources

A Novel MYH7 Gene Mutation in a Fetus With Left Ventricular Noncompaction

Canadian Journal of Cardiology, 2015
Left ventricular noncompaction (LVNC) is a recently defined cardiomyopathy characterized by a pattern of prominent trabecular meshwork and deep intertrabecular recesses. LVNC is rarely described in fetal life, and a small number of cases have been reported.
Yasuhisa, Nomura, Nobuo, Momoi, Keiichi, Hirono, Yukiko, Hata, Asami, Takasaki, Naoki, Nishida, Fukiko, Ichida   +6 more
openaire   +2 more sources

Attenuation of Cardiomyocyte Hypertrophy via Depletion Myh7 Using CASAAV

Cardiovascular Toxicology, 2021
Xiaolan Zheng, Donghui Zhang, Yimin Hua
exaly