A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family

@article{Delague2001ANA,
  title={A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family},
  author={Val{\'e}rie Delague and Corinne Bareil and Patrice Bouvagnet and Nabiha Salem and Eliane Chouery and Jacques Loiselet and Andr{\'e} M{\'e}garban{\'e} and Mireille Claustres},
  journal={Neurogenetics},
  year={2001},
  volume={4},
  pages={23-27}
}
Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We report the mapping of a disease gene in a large inbred Lebanese Druze family, with five cases… CONTINUE READING