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A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
BACKGROUND: The MYH7 gene, which encodes the slow/ß-cardiac myosin heavy chain, is mutated in myosin storage myopathy (MSM). The clinical spectrum of MSM is quite heterogeneous in that it ranges from cardiomyopathies to skeletal myopathies or a combination of both, depending on the affected region....
Autores principales: | Naderi, Niloofar, Mohsen-Pour, Neda, Nilipour, Yalda, Pourirahim, Maryam, Maleki, Majid, Kalayinia, Samira |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10552240/ https://www.ncbi.nlm.nih.gov/pubmed/37794383 http://dx.doi.org/10.1186/s12872-023-03538-8 |
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