Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).
AUTOR(ES)
Pilz, D
RESUMO
DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand mal seizures. Further investigations showed unilateral sensorineural hearing loss and the most common mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy, which was inherited from his mother. This suggests the DIDMOAD phenotype is a mitochondrial disorder in some cases and is likely to have a heterogeneous aetiology.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1049808Documentos Relacionados
- Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy.
- Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy.
- Mitochondrial DNA Complex I and III Mutations Associated with Leber's Hereditary Optic Neuropathy
- An atypical Leber's hereditary optic neuropathy with the 11778 mutation.
- Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation.