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Barttin mutations in antenatal Bartter syndrome with sensorineural deafness

✍ Scribed by Ferda Ozlu; Hacer Yapicioğlu; Mehmet Satar; Nejat Narli; Kenan Ozcan; Mithat Buyukcelik; Martin Konrad; Osman Demirhan

Publisher
Springer
Year
2006
Tongue
English
Weight
58 KB
Volume
21
Category
Article
ISSN
0931-041X

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A novel mitochondrial point mutation in
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
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We have detected a novel mitochondrial mutation in a maternal pedigree, at least 13 of whose members have sensorineural hearing loss of varying severity, but who exhibit no other pathological features. The mutation, at np 7445, converts the 3' terminal T residue of tRNA-ser(UCN) to a C, and also bri

Inherited palmoplantar keratoderma and s
Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome
✍ L. Martin; A. Toutain; C. Guillen; M. Haftek; M.C. Machet; C. Toledano; B. Arbei 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 494 KB

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