myosin heavy chain 7
עודכן לאחרונה 13 Apr 2026
עומד בהנחיות העריכה של Patient
- הורדהורד
- שתף
- Language
- דיון
- גרסת שמע
- הוסף למקורות מועדפים בגוגל
The MYH7 gene provides instructions for making a protein known as myosin-7. This protein is found in heart (cardiac) muscle and in certain skeletal muscles, which are the muscles used for movement. Specifically, myosin-7 is found in type I skeletal muscle fibers, which are also known as slow-twitch fibers. These fibers are the primary component of skeletal muscles that do not tire easily, such as the muscles involved in maintaining posture.
Normal function
The MYH7 gene provides instructions for making a protein known as myosin-7. This protein is found in heart (cardiac) muscle and in certain skeletal muscles, which are the muscles used for movement. Specifically, myosin-7 is found in type I skeletal muscle fibers, which are also known as slow-twitch fibers. These fibers are the primary component of skeletal muscles that do not tire easily, such as the muscles involved in maintaining posture.
Myosin-7 helps generate the mechanical force that is needed for muscles to contract. It combines with other proteins to form the thick filaments that are found within structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are composed of overlapping thick filaments and thin filaments. These thick and thin filaments undergo cycles of attachment and release, which allow the thin filaments to slide past the thick filaments. These movements shorten the sarcomere, which causes the muscle to contract. Regular contractions of cardiac muscle pump blood to the rest of the body, while the coordinated contraction and relaxation of skeletal muscles allow the body to move.
Conditions referring to this gene or chromosome
Other names
CMD1S
Related patient information and medicines
Patient information leaflet
פרוטאינוריה
Proteins are molecules that are found in almost every part of the body, including in the blood. The kidneys normally have a filter which stops protein from entering the urine, except in very tiny amounts; however, kidney problems can cause higher levels of protein to be found in the urine. What is proteinuria. Proteinuria means that there is an.
Patient information leaflet
בדיקת דם ליילוד
Mothers of all newborn babies are offered testing for certain rare but serious health conditions by testing blood taken from the baby's heel. This is the blood spot screening... Medium-chain acyl-Co-A dehydrogenase deficiency (MCADD)- this is a very rare, but potentially life-threatening, inherited disorder, where fat cannot be broken down by the.
Patient information leaflet
קולפוסקופיה וטיפולים בצוואר הרחם
קולפוסקופיה allows a closer and more detailed look at these abnormal cells. About 1 cervical screening test in 20 is abnormal. If the result is not normal, then the advice may be to repeat the test within the following 12 months, or a colposcopy may be recommended. About 1 in 80 women who have a cervical smear have an abnormal result that results.
Patient information leaflet
כאבי מחזור
"Dysmenorrhoea" מטופל? the medical term for painful menstrual periods. Primary dysmenorrhoea This is the most common type of painful period. This occurs where there is no underlying problem of the womb (uterus) or pelvis. "Primary" means that there's no other health condition causing it. It often occurs in teenagers and in women in their 20s..
Patient information leaflet
בלוטות לימפה נפוחות
בלוטות לימפה נפוחות (also called lymph nodes) are usually a sign that your body is fighting infection, but they can have other causes. Common areas for swollen glands include the neck, under the chin, in the armpits and in the groin. Swollen lymph glands caused by infection usually get better on their own within two weeks. In this leaflet we.
Patient information leaflet
האם אני יכול לקחת אלכוהול ואטורבסטטין יחד?
Drinking alcohol while taking atorvastatin can increase the risk of liver problems and a rare but serious muscle condition called rhabdomyolysis. While a small amount of alcohol is usually fine, heavy drinking or binge drinking significantly increases these risks. It is generally advised to limit your alcohol intake while taking atorvastatin as it.
קריאה נוספת והפניות
- myosin heavy chain 7; MedlinePlus, National Library of Medicine.
- Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, Lagrange E, Duval F, Tard C, De la Cruz E, Feasson L, Jacquin-Piques A, Richard P, Metay C, Cavalli M, Romero NB, Evangelista T, Sole G, Carlier RY, Laforet P, Acket B, Behin A, Fernandez-Eulate G, Leonard-Louis S, Quijano-Roy S, Pereon Y, Salort-Campana E, Nadaj-Pakleza A, Masingue M, Malfatti E, Stojkovic T, Villar-Quiles RN. MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort. J Neurol Neurosurg Psychiatry. 2025 Apr 10;96(5):453-461. doi: 10.1136/jnnp-2024-334263.
- Cimiotti D, Budde H, Hassoun R, Jaquet K. Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach. Int J Mol Sci. 2021 Jan 8;22(2):558. doi: 10.3390/ijms22020558.
- Claeys KG. Congenital myopathies: an update. Dev Med Child Neurol. 2020 Mar;62(3):297-302. doi: 10.1111/dmcn.14365. Epub 2019 Oct 2.
- Dong X, Fan P, Tian T, Yang Y, Xiao Y, Yang K, Liu Y, Zhou X. Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy. Clin Chim Acta. 2017 Feb;465:40-44. doi: 10.1016/j.cca.2016.12.013. Epub 2016 Dec 15.
- Finsterer J, Stollberger C, Towbin JA. Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. Nat Rev Cardiol. 2017 Apr;14(4):224-237. doi: 10.1038/nrcardio.2016.207. Epub 2017 Jan 12.
- Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet J Rare Dis. 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1.
- Li N, Zhao Z, Shen H, Bing Q, Guo X, Hu J. MYH7 mutation associated with two phenotypes of myopathy. Neurol Sci. 2018 Feb;39(2):333-339. doi: 10.1007/s10072-017-3192-2. Epub 2017 Nov 24.
- Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. doi: 10.1086/424760. Epub 2004 Aug 20.
- Ritter A, Leonard J, Gray C, Izumi K, Levinson K, Nair DR, O'Connor M, Rossano J, Shankar V, Chowns J, Marzolf A, Owens A, Ahrens-Nicklas RC. MYH7 variants cause complex congenital heart disease. Am J Med Genet A. 2022 Sep;188(9):2772-2776. doi: 10.1002/ajmg.a.62766. Epub 2022 May 2.
- Rojanasopondist P, Nesheiwat L, Piombo S, Porter GA Jr, Ren M, Phoon CKL. Genetic Basis of Left Ventricular Noncompaction. Circ Genom Precis Med. 2022 Jun;15(3):e003517. doi: 10.1161/CIRCGEN.121.003517. Epub 2022 May 12.
- Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol. 2003 Oct;54(4):494-500. doi: 10.1002/ana.10693.
- Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004 Aug 4;44(3):602-10. doi: 10.1016/j.jacc.2004.04.039.
- Viswanathan MC, Tham RC, Kronert WA, Sarsoza F, Trujillo AS, Cammarato A, Bernstein SI. Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo. Hum Mol Genet. 2017 Dec 15;26(24):4799-4813. doi: 10.1093/hmg/ddx359.
הצטרפו לשיחה
שתפו את מחשבותיכם או חוויותיכם עם אחרים ב קהילות המטופלים שלנו.
שאלו, שתפו, התחברו.
עיין בדיונים, שאל שאלות ושתף חוויות במאות נושאים בריאותיים.
הירשמו לניוזלטר של פיישנט
המנה השבועית שלך של עצות בריאות ברורות ואמינות - נכתבה כדי לעזור לך להרגיש מעודכן, בטוח ובשליטה.
על ידי הרשמה אתה מקבל את שלנו מדיניות הפרטיות שלנו. באפשרותך לבטל את המנוי בכל עת. לעולם לא נמכור את הנתונים שלך.