Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy

Abstract excerpt

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 from 11 months to 18 years, and whole-genome sequencing. Results All the siblings had a marked and characteristic facial...

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