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A novel DCC mutation and genetic heterogeneity in congenital mirror movements. 2011

A Djarmati-Westenberger, and N Brüggemann, and A J Espay, and K P Bhatia, and C Klein

UI MeSH Term Description Entries
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016163 Genes, DCC Tumor suppressor genes located in the 18q21-qter region of human chromosome 18. The absence of these genes is associated with the formation of colorectal cancer (DCC stands for deleted in colorectal cancer). The products of these genes show significant homology to neural cell adhesion molecules and other related cell surface glycoproteins. DCC Gene,DCC Genes,Gene, DCC
D018740 Genetic Heterogeneity The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) Heterogeneity, Genetic,Genetic Heterogeneities,Heterogeneities, Genetic
D019956 Stereotypic Movement Disorder Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (DSM-IV, 1994) Body Rocking,Head Banging,Movement Disorder, Stereotypic,Stereotypic Movement Disorders

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