## Abstract We here report on a Japanese family with congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with slowly progressive cerebellar ataxia. The pedigree indicated autosomal dominant inheritance. All affected individuals showed a complete loss of upgaze function with p
โฆ LIBER โฆ
Recurrent Mutation of theKIF21AGene in Japanese Patients with Congenital Fibrosis of the Extraocular Muscles
โ Scribed by Satoko Shimizu; Akira Okinaga; Toshio Maruo
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 895 KB
- Volume
- 49
- Category
- Article
- ISSN
- 0021-5155
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