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Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy
OBJECTIVE: To describe the long-term clinical follow-up in 3 siblings with Carey-Fineman-Ziter syndrome (CFZS), a form of congenital myopathy with a novel mutation in the myomaker gene (MYMK). METHODS: We performed clinical investigations, repeat muscle biopsy in 2 of the siblings at ages ranging fr...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066360/ https://www.ncbi.nlm.nih.gov/pubmed/30065953 http://dx.doi.org/10.1212/NXG.0000000000000254 |