Article
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.
Human genetics - 1 Nov 2014
Ahmed Iltaf, Mittal Kirti, Sheikh Taimoor I, Vasli Nasim, Rafiq Muhammad Arshad, Mikhailov Anna, Ohadi Mehrnaz, Mahmood Huda, Rouleau Guy A, Bhatti Attya, Ayub Muhammad, Srour Myriam, John Peter, Vincent John B
Abstract excerpt
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...
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