Myosin storage myopathy
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Myosin storage myopathy is a condition that affects muscle (myopathy). This disorder causes muscle weakness that can worsen slowly over time. The signs and symptoms of myosin storage myopathy often begin in childhood, although they can begin later. The specific features of myosin storage myopathy and the severity of the condition can vary, even among members of the same family.
Descrição
Myosin storage myopathy is a condition that affects muscle (myopathy). This disorder causes muscle weakness that can worsen slowly over time. The signs and symptoms of myosin storage myopathy often begin in childhood, although they can begin later. The specific features of myosin storage myopathy and the severity of the condition can vary, even among members of the same family.
Children with myosin storage myopathy may start walking later than usual and have a waddling gait. They can have trouble climbing stairs and difficulty lifting their arms above shoulder level. Weak shoulder muscles often make the shoulder blades (scapulae) "stick out" from the back, a sign known as scapular winging. Affected individuals may also have a spine that curves to the side (scoliosis). Some individuals can also develop weakness of the muscles that control breathing (respiratory insufficiency) or weakness of the heart (cardiac) muscle.
Myosin storage myopathy belongs to a group of disorders called congenital myopathies. The signs and symptoms of congenital myopathies are often present at birth (congenital) or soon after. Congenital myopathies may affect the muscles used for movement (skeletal muscle) and, less commonly, the cardiac muscle.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Hyaline body myopathy
MYH7-related skeletal myopathy
Myosin storage congenital myopathy
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Leitura adicional e referências
- Myosin storage myopathy; MedlinePlus, National Library of Medicine.
- Armel TZ, Leinwand LA. Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6291-6. doi: 10.1073/pnas.0900107106. Epub 2009 Mar 31.
- 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.
- Beecroft SJ, van de Locht M, de Winter JM, Ottenheijm CA, Sewry CA, Mohammed S, Ryan MM, Woodcock IR, Sanders L, Gooding R, Davis MR, Oates EC, Laing NG, Ravenscroft G, McLean CA, Jungbluth H. Recessive MYH7-related myopathy in two families. Neuromuscul Disord. 2019 Jun;29(6):456-467. doi: 10.1016/j.nmd.2019.04.002. Epub 2019 Apr 12.
- Cancilla PA, Kalyanaraman K, Verity MA, Munsat T, Pearson CM. Familial myopathy with probable lysis of myofibrils in type I fibers. Neurology. 1971 Jun;21(6):579-85. doi: 10.1212/wnl.21.6.579. No abstract available.
- 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.
- Dahl-Halvarsson M, Pokrzywa M, Rauthan M, Pilon M, Tajsharghi H. Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells. PLoS One. 2017 Jan 26;12(1):e0170613. doi: 10.1371/journal.pone.0170613. eCollection 2017.
- 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.
- Gao Y, Peng L, Zhao C. MYH7 in cardiomyopathy and skeletal muscle myopathy. Mol Cell Biochem. 2024 Feb;479(2):393-417. doi: 10.1007/s11010-023-04735-x. Epub 2023 Apr 20.
- 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.
- Naderi N, Mohsen-Pour N, Nilipour Y, Pourirahim M, Maleki M, Kalayinia S. A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy. BMC Cardiovasc Disord. 2023 Oct 4;23(1):487. doi: 10.1186/s12872-023-03538-8.
- Tajsharghi H, Oldfors A. Myosinopathies: pathology and mechanisms. Acta Neuropathol. 2013 Jan;125(1):3-18. doi: 10.1007/s00401-012-1024-2. Epub 2012 Aug 5.
- 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.
- 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.
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