| Autor: |
Venkatesh, CP, Pillai, VS, Raghunath, A, Prakash, VS, Vathsala, R, Kumar, A, Pericak-Vance, Margaret A |
| Rok vydání: |
2002 |
| Předmět: |
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| Popis: |
Purpose: To describe the clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles (CFEOM) in an Indian family. Methods: Individuals were examined and their peripheral blood samples were withdrawn for genetic analysis. The disorder was tested for linkage to two known autosomal dominant CFEOM loci on chromosome 12p11.2-q12 (CFEOM1) and chromosome 16q24 (CFEOM3) using microsatellite markers. Results: Nine individuals including seven affecteds participated in the study. All seven affecteds had a classic form of CFEOM which included congenital bilateral ptosis, hypotropia, and chin elevation. The disorder segregated as an autosomal dominant trait in this family. The maximum simulated lod score in this family was 2.02. Linkage to CFEOM3 was excluded (Z |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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