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

Artikel i vetenskaplig tidskrift
Författare Carola Oldfors Hedberg
Christopher Lindberg
Anders Oldfors
Publicerad i Neurology-Genetics
Volym 4
Nummer/häfte 4
ISSN 2376-7839
Publiceringsår 2018
Publicerad vid Institutionen för biomedicin, avdelningen för patologi
Språk en
Länkar dx.doi.org/10.1212/nxg.000000000000...
Ämnesord myoblast fusion
Ämneskategorier Neurovetenskaper


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). 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. 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 that in age-matched controls. Genetic analysis revealed biallelic mutations in the MYMK gene, a novel c.235T>C; p.(Trp79Arg), and the previously described c.271C>A; p.(Pro91Thr). Our study expands the genetic and clinical spectrum of MYMK mutations and CFZS. The marked muscle fiber hypertrophy identified from early childhood, despite apparently normal muscle bulk, indicates that defective fusion of myoblasts during embryonic muscle development results in a reduced number of muscle fibers with compensatory hypertrophy and muscle weakness.

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