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.

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

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.

Affiliation

Ahmed I; Molecular Neuropsychiatry and Development (MiND) Lab, Centre For Addiction and Mental Health, Campbell Family Mental Health Research Institute, R32, 250 College Street, Toronto, ON, M5T 1R8, Canada.

Hum Genet ; 133(11): 1419-29, 2014 Nov.

Article in En | MEDLINE | ID: mdl-25098561

Subject(s)

Axonemal Dyneins/genetics; Chromosomes, Human, Pair 22/genetics; Movement Disorders/genetics; Adolescent; Adult; Amino Acid Sequence; Child; Child, Preschool; Consanguinity; DNA Copy Number Variations; Genetic Linkage; Genotype; Homozygote; Humans; Models, Molecular; Molecular Sequence Data; Movement Disorders/congenital; Mutation; Pakistan; Pedigree; RNA Splicing; Sequence Alignment; Sequence Analysis, DNA; Young Adult

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Full text: 1 Database: MEDLINE Main subject: Chromosomes, Human, Pair 22 / Axonemal Dyneins / Movement Disorders Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans Country/Region as subject: Asia Language: En Journal: Hum Genet Year: 2014 Type: Article Affiliation country: Canada

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