Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy
Abstract Background Tibial muscular dystrophy (TMD), tardive, is a dominantly inherited mild degenerative disorder of anterior tibial muscles. Mutations of Titin (TTN) have been reported in patients with different phenotypes such as skeletal muscular abnormalities or complex overlapping disorders of...
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| Autores principales: | , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
SpringerOpen
2022-03-01
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| Colección: | Egyptian Journal of Medical Human Genetics |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1186/s43042-022-00284-y |
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