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Titin Founder Mutation is a Common cause of Myofibrillar Myopathy with Early Respiratory Failure
OBJECTIVE: Titin gene (TTN) mutations have been described in 8 families with hereditary myopathy with early respiratory failure (HMERF). Some of the original patients had features resembling myofibrillar myopathy (MFM), arguing that TTN mutations could be a much more common cause of inherited muscle...
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| Veröffentlicht in: | J Neurol Neurosurg Psychiatry |
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6558248/ https://ncbi.nlm.nih.gov/pubmed/23486992 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2012-304728 |
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