Results 141 to 150 of about 8,048 (176)

Myosin storage myopathy with cardiomyopathy

Neuromuscular Disorders, 2007
H. Tajsharghi, A. Oldfors, M. Swash
semanticscholar   +2 more sources

A Novel Missense Mutation In The MYH7 Gene Causes An Uncharacteristic Phenotype Of Myosin Storage Myopathy: A Case Report (4422)

Neurology, 2020
Alier Marrero, J. Mamelona, Louisa Filice, Youcef Oussedik, Nicolas Crapoulet   +4 more
semanticscholar   +2 more sources

Myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments

Biophysical Journal
Meera C. Viswanathan, D. Dutta, William A. Kronert, Kripa Chitre, R. Padrón, R. Craig, S. Bernstein, A. Cammarato   +7 more
semanticscholar   +2 more sources

C.P.1.15 Myosin storage myopathy with a novel slow-skeletal myosin (MYH7) mutation in a Chinese patient

Neuromuscular Disorders, 2007
J. Chai, C. Liu, P. Lai, W. Yee
semanticscholar   +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

Prevalence of genetic mutations in horses with muscle disease from a neuromuscular disease laboratory.

Journal of Equine Veterinary Science, 2022
Deleterious genetic variants are an important cause of skeletal muscle disease. Immunohistochemical evaluation of muscle biopsies is standard for the diagnosis of muscle disorders. The prevalence of alleles causing hyperkalemic periodic paralysis (HYPP),
M. Aleman, R. Scalco, Julia Malvick, Robert Grahn, Alexander True, R. R. Bellone   +5 more
semanticscholar   +1 more source

Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype.

Journal of Clinical Neuromuscular Disease, 2020
Laing distal myopathy (LDM) is an autosomal dominant disorder caused by mutations in the slow skeletal muscle fiber myosin heavy chain (MYH7) gene on chromosome 14q11.2.
C. Alessi, Qian Wu, Charles H. Whitaker, K. Felice   +3 more
semanticscholar   +1 more source

Novel mutation in MYH7 gene causing scapuloperoneal syndrome (P4.122)

Neurology, 2017
Objective: To describe a newly identified mutation in the MYH7 gene Background: Clinical manifestations of MYH7 gene mutations are heterogeneous and include isolated cardiac or muscle disease with or without cardiac involvement. Classic muscle phenotypes
R. Varela, A. Brás, Olinda Rebelo, Anabela Matos, Argemiro Geraldo, M. Lourenço, F. Laranjeiro, A. Marmiesse, C. Marques, L. Negrão   +9 more
semanticscholar   +1 more source

Myosin Storage Myopathy Mutations Disrupt Myofibrillar Assembly/ Stability and Cause Progressive Muscle Degeneration in a Drosophila Model

, 2014
Meera C. Viswanathan, William A. Kronert, G. Melkani, A. Cammarato, S. Bernstein   +4 more
semanticscholar   +1 more source

Faculty Opinions recommendation of Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2009
Anders Oldfors, Homa Tajsharghi
openaire   +1 more source