Associated Papers
Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments.
Viswanathan MC et al.
Genetics, 2025
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Muelas N et al.
Journal of Neurology, 2025
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
Carrington G et al.
Jci Insight, 2023
A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.
Naderi N et al.
Bmc Cardiovascular Disorders, 2023
Impaired muscle morphology in a Drosophila model of myosin storage myopathy was supressed by overexpression of an E3 ubiquitin ligase.
Dahl-Halvarsson M et al.
Disease Models & Mechanisms, 2020
Myosins and Disease.
Coluccio LM
Advances in Experimental Medicine and Biology, 2020
Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry.
Minarik L et al.
Folia Biologica, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
MYH7 mutation associated with two phenotypes of myopathy.
Li N et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.
Viswanathan MC et al.
Human Molecular Genetics, 2017
Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
Bánfai Z et al.
Bmc Medical Genetics, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E et al.
Orphanet Journal of Rare Diseases, 2017
Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.
Dahl-Halvarsson M et al.
Plos One, 2017
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.
Yüceyar N et al.
Neuromuscular Disorders : Nmd, 2015
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ et al.
Human Mutation, 2014
Myosinopathies: pathology and mechanisms.
Tajsharghi H et al.
Acta Neuropathologica, 2013
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.
Cullup T et al.
Neuromuscular Disorders : Nmd, 2012
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.
Kurapati R et al.
Human Molecular Genetics, 2012
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
Ortolano S et al.
Neuromuscular Disorders : Nmd, 2011
Actinopathies and myosinopathies.
Goebel HH et al.
Brain Pathology (zurich, Switzerland), 2009
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.
Armel TZ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
Uro-Coste E et al.
Neuromuscular Disorders : Nmd, 2009
Thick and thin filament gene mutations in striated muscle diseases.
Tajsharghi H
International Journal of Molecular Sciences, 2008
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1.
Quinzii CM et al.
American Journal of Human Genetics, 2008
Thick filament diseases.
Oldfors A et al.
Advances in Experimental Medicine and Biology, 2008
Myosin storage myopathy with cardiomyopathy.
Tajsharghi H et al.
Neuromuscular Disorders : Nmd, 2007
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
Pegoraro E et al.
Neuromuscular Disorders : Nmd, 2007
Myosin storage (hyaline body) myopathy: a case report.
Shingde MV et al.
Neuromuscular Disorders : Nmd, 2006
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.
Dye DE et al.
Neuromuscular Disorders : Nmd, 2006
When contractile proteins go bad: the sarcomere and skeletal muscle disease.
Laing NG et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2005
121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7-9 November 2003, Naarden, The Netherlands.
Goebel H et al.
Neuromuscular Disorders : Nmd, 2004
Myopathies associated with myosin heavy chain mutations.
Oldfors A et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2004
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.
Tajsharghi H et al.
Annals of Neurology, 2003
Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy.
Wilkie H et al.
Neurology, 2002