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Novel autosomal dominant TNNT1 mutation causing nemaline myopathy
BACKGROUND: Nemaline myopathy (NEM) is one of the three major forms of congenital myopathy and is characterized by diffuse muscle weakness, hypotonia, respiratory insufficiency, and the presence of nemaline rod structures on muscle biopsy. Mutations in troponin T1 (TNNT1) is 1 of 10 genes known to c...
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| Publicat a: | Mol Genet Genomic Med |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5702563/ https://ncbi.nlm.nih.gov/pubmed/29178646 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.325 |
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