Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey
✍ Scribed by M. Tekin,T. Duman,G. Boğoçlu,A. İncesulu,E. Çomak…
- Book ID
- 113042631
- Publisher
- Springer
- Year
- 2003
- Tongue
- English
- Weight
- 362 KB
- Volume
- 162
- Category
- Article
- ISSN
- 0340-6997
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A New Zealand and a Scottish pedigree with maternally inherited sensorineural deafness were both previously shown to carry a heteroplasmic A7445G mutation in the mitochondrial genome. More detailed clinical examination of the New Zealand family showed that the hearing loss was progressive, with the
We report a French pedigree with members having an inherited combination of non-epidermolytic palmoplantar keratoderma (NEPPK) and sensorineural deafness. The penetrance of both features was incomplete. Additional ectodermal defects were absent. The expression of numerous epidermal proteins (keratin