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

ABSTRACT:

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 weakness and variable dysmorphic features affecting the face, hands, and feet, and short stature. They had experienced muscle hypotonia and generalized muscle weakness since early childhood. The muscle biopsies revealed, as the only major abnormality at all ages, a marked hypertrophy of both type 1 and type 2 fibers with more than twice the diameter of

SUBMITTER: Hedberg-Oldfors C 

PROVIDER: S-EPMC6066360 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature