CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES: P.237Congenital fatal cap-rod myopathy due to a de novo autosomal dominant pathogenic ACTA1 variant
| Autor: | Phadke, R., Herron, B., Hurrell, D., Craig, S., Kelly, B., Sarkozy, A., Sewry, C., Muntoni, F., McConnell, V. |
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| Zdroj: | In Neuromuscular Disorders October 2018 28 Supplement 2:S103-S103 |
| Databáze: | ScienceDirect |
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