Search
All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: A804T
cDNA Position: 2410 g→a (exon 14)
|
|||
---|---|---|---|
Disease | Genetics | Frequency | Reference |
Fatigue, muscle complaints, and bulbar dysarthria | ar, found in one 55 yr. old pt. | <0.5% in Dutch population | (Blok and van den Bosch et al., 2009) PubMed |