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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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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2017
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| Assuntos: | |
| Acesso em linha: | 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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