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A 7445g MTDNA mutation present in a portuguese family exhibiting hereditary deafness and palmoplantar

✍ Scribed by Maria Alexandra M.O.F. Feijóo; Rui Oliveira-Soares; João Pignatelli

Book ID
116578609
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
43 KB
Volume
50
Category
Article
ISSN
1097-6787

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Mitochondrial A7445G mutation in two ped
Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness
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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

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Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome
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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