Article
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?
The Israel Medical Association journal : IMAJ - 1 Dec 2013
Blumen Sergiu C, Kesler Anat, Dabby Ron, Shalev Stavit, Khayat Morad, Almog Yechoshua, Zoldan Joseph, Benninger Felix, Drory Vivian E, Gurevich Michael, Sadeh Menachem, Brais Bernard, Braverman Itzhak
Abstract excerpt
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) produced by the (GCG)13 expansion mutation in the PABPN1 gene is frequent among Uzbek Jews in Israel. OBJECTIVES: To describe the phenotypic and genotypic features in five Bulgarian Jewish patients, from different families, with autosomal dominant OPMD. METHODS: We performed clinical follow-up, electrodiagnostic tests and mutation detection. Blood samples were...
Topics
- Aged
- Bulgaria
- Electromyography
- Female
- Genetic Predisposition to Disease
- Humans
- Israel
- Jews
- Male
- Middle Aged
- Muscle Weakness
- Muscular Dystrophy, Oculopharyngeal
- Mutation