Key result
Homozygous frameshift and nonsense mutations in the kinase ZAK were identified as a novel genetic cause of congenital myopathy in 6 patients from three consanguineous families.
Observational (n=6)
Identifies recessive mutations in the kinase ZAK as a novel genetic cause of congenital myopathies with fibre type disproportion.
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May expand congenital myopathy gene panels; leaves open replication and functional validation before clinical adoption.
Vasli et al. (2016) conducted an observational in Congenital myopathy (n=6). Homozygous mutations in the kinase ZAK was evaluated on Identification of genetic cause of congenital myopathy. Homozygous frameshift and nonsense mutations in the kinase ZAK were identified as a novel genetic cause of congenital myopathy in 6 patients from three consanguineous families.
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