Abstract
We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families - two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.
Original language | English (US) |
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Pages (from-to) | 21-22 |
Number of pages | 2 |
Journal | Nature genetics |
Volume | 30 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2002 |
ASJC Scopus subject areas
- Genetics