Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1916650 | Journal of the Neurological Sciences | 2006 | 5 Pages |
Abstract
Mutations in the gene coding for ganglioside-induced differentiation-associated protein-1 (GDAP1), which maps to chromosome 8q21, have been described in families with autosomal recessive Charcot–Marie–Tooth disease (CMT4A). Interestingly, some mutations in the GDAP1 gene have been reported in the demyelinating form of CMT1 disease, whereas others were found in patients with the axonal type of CMT disease. So far, 23 mutations in the GDAP1 gene have been reported in patients of different ethnic origins. In this study we report a novel mutation Met116Thr in the GDAP1 gene identified in a three generation Polish family with axonal CMT4.
Keywords
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Ageing
Authors
Dagmara Kabzińska, Andrzej Kochański, Hanna Drac, Katarzyna Rowińska-Marcińska, Barbara Ryniewicz, Laia Pedrola, Francesc Palau, Irena Hausmanowa-Petrusewicz,