Results 51 to 60 of about 1,503,695 (131)

Additional file 1: of A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

, 2019
Table S1. Sequencing parameters. Table S2. Detailed information for primers used for Sanger sequencing. Table S3. Supplementary information on candidate exome variants filtered by database. (DOCX 18 kb)
Mamelona, Jean, Filice, Louisa, Oussedik, Youcef, Crapoulet, Nicolas, Ouellette, Rodney, Marrero, Alier   +5 more
openaire   +1 more source

Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C

, 2010
BACKGROUND: Myosin binding protein C (MyBPC) is essential for the structure of the sarcomeres in striated muscle. There is one cardiac specific isoform and two skeletal muscle specific isoforms.
Abdul-Hussein, Saba,, Tulinius, Mar,, Oldfors, Anders,, Tajsharghi, Homa,, Leren, Trond P.,, Brunvand, Leif, Dahl, Hilde M.,, Brunvand, Leif,, Leren, Trond P, Dahl, Hilde M   +9 more
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Myopathies associated with myosin heavy chain mutations

, 2004
Myosin, a molecular motor, converts chemical energy into mechanical force. The motor domain of myosin heavy chain (MyHC) includes an ATP binding region with ATPase activity and an actin-binding region. Motor function is achieved by conformational changes,
Oldfors, Anders,, Tajsharghi, Homa,, Darin, Niklas,, Lindberg, Christopher,   +3 more
core   +1 more source

Acute Quadriplegic Myopathy : An Acquired "Myosinopathy"

, 2008
Acquired neuromuscular disorders have been shown to be very common in critically ill patients receiving prolonged mechanical ventilation in the intensive care unit (ICU).
Larsson, Lars,
core   +5 more sources

A therapeutic leap: how myosin inhibitors moved from cardiac interventions to skeletal muscle myopathy solutions

The myosin inhibitor mavacamten has transformed the management of obstructive hypertrophic cardiomyopathy (HCM) by targeting myosin ATPase activity to mitigate cardiac hypercontractility.
Julius Bogomolovas, Ju Chen
core   +1 more source

The Hypertrophic Cardiomyopathy Myosin Mutation R453C Alters ATP Binding and Hydrolysis of Human Cardiac beta-Myosin

, 2014
The human hypertrophic cardiomyopathy mutation R453C results in one of the more severe forms of the myopathy. Arg-453 is found in a conserved surface loop of the upper 50-kDa domain of the myosin motor domain and lies between the nucleotide binding ...
Geeves, M., Leinwand, Leslie A., Combs, A., Geeves, Michael A., Vera, Carlos, Combs, Ariana, Deacon, John C., Bloemink, Marieke J., Langer, Stephen, Deacon, J., Vera, C., Bloemink, M., Langer, S., Leindwand, L.   +13 more
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Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

, 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.
Wheeler, Patricia G, Barboi, Alexandru C, Gooding, Rebecca, Suominen, Tiina, Van den Bergh, Peter, Jungbluth, Heinz; id_orcid, Beggs, Alan H, Staples, Christopher, Wraige, Elizabeth, Cox, Gerald F, Palmio, Johanna, Dastgir, Jahannaz, Penttilä, Sini, Argov, Zohar, Laing, Nigel G, Connolly, Anne M, Hilton-Jones, David, Davies, Nicholas, Wallefeld, William, Boycott, Kym M, Vilchez, Juan J, DeChene, Elizabeth T, Muelas, Nuria, Wagner, Kathryn R, Bonneman, Carsten, Udd, Bjarne, Bushby, Kate, Straub, Volker, Van den Bergh, Peter Y K, Jungbluth, Heinz, Lamont, Phillipa J, Schmedding, Eric, Phillipa J Lamont   +32 more
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A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity [PDF]

Proline substitutions within the coiled-coil rod region of the β-myosin gene (MYH7) are the predominant mutations causing Laing distal myopathy (MPD1), an autosomal dominant disorder characterized by progressive weakness of distal/proximal muscles.
Gugel, Jack F., Bönnemann, Carsten G., Jack F. Gugel, Abbi Hau, Wilson, Genevieve Ck, Ada Buvoli, Wilson, Genevieve Ck., Ryba, David M., Buvoli, Massimo, Genevieve C.K. Wilson, Lori A. Walker, Ochala, Julien, Woulfe, Kathleen C., Buvoli, Tommaso, Leslie A. Leinwand, Leinwand, Leslie A., David M. Ryba, Paradas, Carmen, Massimo Buvoli, Carsten G. Bönnemann, Julien Ochala, Carmen Paradas, Hau, Abbi, Walker, Lori A., Tommaso Buvoli, Buvoli, Ada, Kathleen C. Woulfe   +26 more
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Additional file 2 of A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy

Supplementary Material ...
Naderi, Niloofar, Mohsen-Pour, Neda, Nilipour, Yalda, Pourirahim, Maryam, Maleki, Majid, Kalayinia, Samira   +5 more
openaire   +1 more source

Critical illness myopathy unrelated to corticosteroids or neuromuscular blocking agents.

, 1998
Acute myopathy occurs in critically ill patients, receiving neuromuscular blocking agents or corticosteroids during intensive care hospitalisation. We report three patients with acute quadriplegic myopathy, two of whom were not exposed to corticosteroids
Deconinck, N., Beckers-Bleukx, G, Deconinck, N, Van den Bergh, Peter, Beckers, Georgette, Van Parijs, V, G Beckers-Bleukx, P Van den Bergh, V Van Parijs, Van Parijs, Vinciane, Van den Bergh, P, N Deconinck   +11 more
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