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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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| Gepubliceerd in: | Mol Genet Genomic Med |
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| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
John Wiley and Sons Inc.
2017
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| Onderwerpen: | |
| Online toegang: | 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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