Case Reports
doi: 10.1002/humu.1380050110.
Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation
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- PMID: 7728152
- DOI: 10.1002/humu.1380050110
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Case Reports
Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation
Hum Mutat.
1995.
Abstract
We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Déjérine-Sottas neuropathy. Single-stranded conformation analysis of PCR-amplified DNA fragments showed an additional fragment for exon 1 in the patient, which was absent in the unaffected parents. Sequence analysis showed a de novo point mutation C85-->A that results in an amino acid substitution His12Gln in the first transmembrane domain of PMP22. This provides further evidence that sporadic cases of Déjérine-Sottas neuropathy can be due to dominant single base substitutions.
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