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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...
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| Pubblicato in: | Neurol Genet |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wolters Kluwer
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6066360/ https://ncbi.nlm.nih.gov/pubmed/30065953 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000254 |
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