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      Pediatric Neuro-Ophthalmology 

      Complex Ocular Motor Disorders in Children

      Springer New York

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          Myasthenia gravis.

           D Drachman (1994)
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            Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.

             G Yvert,  A Brice,  P Giunti (1997)
            The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3p12-13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 patients. On mutated alleles, CAG repeat size is highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranges from 7 to 17 repeats. Gonadal instability in SCA7 is greater than that observed in any of the seven known neuro-degenerative diseases caused by translated CAG repeat expansions, and is markedly associated with paternal transmissions. SCA7 is the first such disorder in which the degenerative process also affects the retina.
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              Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

              Joubert syndrome-related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the CEP290 gene in five families with variable neurological, retinal and renal manifestations. CEP290 expression was detected mostly in proliferating cerebellar granule neuron populations and showed centrosome and ciliary localization, linking JSRDs to other human ciliopathies.
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                Author and book information

                Book
                978-0-387-69066-7
                978-0-387-69069-8
                2010
                10.1007/978-0-387-69069-8
                Book Chapter
                2010
                December 9 2009
                : 309-382
                10.1007/978-0-387-69069-8_7

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