We describe a family which demonstrates and expands the extreme clinical variabilty now known to be associated with the A+G transition at nucleotide position 3243 of the mitochondrial DNA. The propositus presented at birth with clinical manifestations consistent with diabetic embryopathy including a
Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics
โ Scribed by H. Nagata; K. Kumahara; T. Tomemori; Y. Arimoto; K. Isoyama; K. Yoshida; A. Konno
- Publisher
- Nature Publishing Group
- Year
- 2001
- Tongue
- English
- Weight
- 75 KB
- Volume
- 46
- Category
- Article
- ISSN
- 1435-232X
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