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

被引：0

作者：

Valérie Delague

Corinne Bareil

Patrice Bouvagnet

Nabiha Salem

Eliane Chouery

Jacques Loiselet

André Mégarbané

Mireille Claustres

机构：

[1] Unité de Génétique Médicale,

[2] Laboratoire de Génétique Moléculaire,undefined

[3] Faculté de Médecine,undefined

[4] Université Saint-Joseph,undefined

[5] Beirut,undefined

[6] Laboratoire de Génétique Moléculaire,undefined

[7] Institut Universitaire de Recherche Clinique,undefined

[8] Montpellier,undefined

[9] Laboratoire de Génétique Moléculaire Humaine,undefined

[10] Université Claude Bernard,undefined

[11] Lyon 1,undefined

[12] Present address: Unité de Génétique Médicale,undefined

[13] Faculté de Médecine,undefined

[14] Université Saint-Joseph,undefined

[15] 42,undefined

[16] rue de Grenelle. 75007 Paris,undefined

[17] France,undefined

来源：

Neurogenetics | 2002年 / 4卷

关键词：

Cerebellar ataxia Congenital Non-progressive Middle-East Homozygosity mapping;

D O I：

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学科分类号：

摘要：

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 of a new form of non-progressive autosomal recessive congenital ataxia associated with optic atrophy, severe mental retardation, and structural skin abnormalities, to a 3.6-cM interval on chromosome 15q24–15q26.

引用

页码：23 / 27

页数：4