Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder

@article{Ahmed2014IdentificationOA,
  title={Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder},
  author={Iltaf Ahmed and Kirti Mittal and Taimoor Islam Sheikh and Nasim Vasli and Muhammad Arshad Rafiq and Anna Mikhailov and Mehrnaz Ohadi and Huda Mahmood and Guy Rouleau and Attya Bhatti and Muhammad Mudussir Ayub and Myriam Srour and Peter C. St John and John B Vincent},
  journal={Human Genetics},
  year={2014},
  volume={133},
  pages={1419-1429}
}
Mirror movements (MRMV) are involuntary movements on one side of the body that mirror voluntary movements on the opposite side. Congenital mirror movement disorder is a rare, typically autosomal-dominant disorder, although it has been suspected that some sporadic cases may be due to recessive inheritance. Using a linkage analysis and a candidate gene approach, two genes have been implicated in congenital MRMV disorder to date: DCC on 18q21.2 (MRMV1), which encodes a netrin receptor, and RAD51… CONTINUE READING