A genetic mutation has been found to be responsible for a condition that often causes fatality in babies just days after birth. Mutations the gene KLHL 40 are responsible for 20% of cases of nemaline myopathy.
The gene is linked to muscle development and function. Babies who have mutations with this gene have severe muscle weakness that restricts movement in the womb, as well as swallowing difficulties at birth.
This study will encourage the use of prenatal or pre-implantation screening for prospective parents who have a family history or symptoms during pregnancy.Read more at University of Western Australia