Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.

ABSTRACT: Congenital myopathies define a heterogeneous group of neuromuscular diseases with neonatal or childhood hypotonia and muscle weakness. The genetic cause is still unknown in many patients, precluding genetic counselling and better understanding of the physiopathology. To identify novel genetic causes of congenital myopathies, exome sequencing was performed in three consanguineous families. We identified two homozygous frameshift mutations and a homozygous nonsense mutation in the mitogen-activated protein triple kinase ZAK. In total, six affected patients carry these mutations. Reverse transcription polymerase chain reaction and transcriptome analyses suggested nonsense mRNA decay as a main impact of mutations. The patients demonstrated a generalized slowly progressive muscle weakness accom

SUBMITTER: Vasli N 

PROVIDER: S-EPMC5226058 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature