ArticleAmerican journal of human genetics1999
Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 134 citations in OpenAlex.
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- The congenital muscular dystrophies.Annals of the Child Neurology Society · 2024Review
- Congenital protein hypoglycosylation diseases.The application of clinical genetics · 2012Article
- Malformations of the midbrain and hindbrain: a retrospective study and review of the literature.Cerebellum (London, England) · 2009Review
- Malformations of cortical development.The neurologist · 2008Review
- Amelioration of laminin-alpha2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin.Proceedings of the National Academy of Sciences of the United States of America · 2005Article
- Article
- The role of defective glycosylation in congenital muscular dystrophy.Glycoconjugate journal · 2004Review
- Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.European journal of pediatrics · 2003Review
- The Finnish Disease Heritage III: the individual diseases.Human genetics · 2003Review
- Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.American journal of human genetics · 2002Article
- Neurodevelopmental disorders as a cause of seizures: neuropathologic, genetic, and mechanistic considerations.Brain pathology (Zurich, Switzerland) · 2002Review
- Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.American journal of human genetics · 2001Article
- Reelin' in Genes for Cortical Dysplasia.Epilepsy currents · 2001Article
- X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition.The British journal of ophthalmology · 2001Article
- Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.American journal of human genetics · 2000Article
- The congenital muscular dystrophies: recent advances and molecular insights.Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyReview
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type neuronal migration disorder of the brain. A similar combination of muscle and brain involvement is also seen in Walker-Warburg syndrome (WWS) and Fukuyama congenital muscular dystrophy (FCMD). Whereas the gene underlying FCMD has been mapped and cloned, the genetic location of the WWS gene is still unknown. Here we report the assignment of the MEB gene to chromosome 1p32-p34 by linkage analysis and homozygosity mapping in eight families with 12 affected individuals. After a genomewide search for linkage in four affected sib pairs had pinpointed the assignment to 1p, the MEB locus was more precisely assigned to a 9-cM interval flanked by markers D1S200 proximally and D1S211 distally. Multipoint linkage analysis gave a maximum LOD score of 6.17 at locus D1S2677. These findings provide a starting point for the positional cloning of the disease gene, which may play an important role in muscle function and brain development. It also provides an opportunity to test other congenital muscular dystrophy phenotypes, in particular WWS, for linkage to the same locus.
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