- Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1A Guilbot
INSERM U289, Hopital de la Salpetriere, Paris
Eur J Hum Genet 7:849-59. 1999..The most obvious candidate gene, EGR1, expressed specifically in Schwann cells, mapped outside of the candidate region and no base changes were detected in two families by sequencing of the entire coding sequence...
- A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth diseaseA Guilbot
INSERM U289, Hopital de la Salpetriere, 47 Boulevard de l Hopital, Paris, France
Hum Mol Genet 10:415-21. 2001..These data confirm the importance of the periaxin proteins to normal Schwann cell function and substantiate the utility of the periaxin-null mouse as a model of ARCMT disease...
- Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33E LeGuern
INSERM U289, Hopital de la Salpetriere, Paris, France
Hum Mol Genet 5:1685-8. 1996..Haplotype reconstruction and determination of the minimal region of homozygosity restricts the candidate region to a 4 cM interval...
- Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutationsH Azzedine
INSERM U679 ex U289, Neurology and Experimental Therapeutics, La Pitie Salpetriere Hospital, Paris, France
Neurology 67:602-6. 2006..Recently, 11 mutations were identified in the SH3TC2 (KIAA1985) gene in 12 families with demyelinating ARCMT from Turkish, Iranian, Greek, Italian, or German origin...
- The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5qH Z Ring
Department of Genetics, Stanford University School of Medicine, CA 94305, USA
Hum Genet 104:326-32. 1999..Genotyping in two families localized the NRG2 gene outside of the revised candidate interval between D5S402-D5S210 and excluded NRG2 as the gene responsible for this form of CMT disease...