Clinical features of patients with diabetes and deafness not carrying the m.3243A>G mutation
Mitochondrial DNA genotype . | Percentage heteroplasmy in muscle . | Years that deafness preceded diabetes . | Clinical features at time of presentation with diabetes . |
---|---|---|---|
m.8344A>G | 90 | 13 | Ptosis/dysarthria/ataxia |
m.12258C>A | 85 | 0 | None |
m.12258C>A | 68 | 16 | Mild constipation/dysarthria/fatigue |
Single mtDNA deletion | ND | 9 | Ptosis/CPEO/dysarthria/ataxia |
Single mtDNA deletion | 50 | 12 | Ptosis/CPEO/dysarthria/ataxia |
Single mtDNA deletion | ND | 15 | Ptosis/dysarthria/mild ataxia |
Single mtDNA deletion | 10 | 4 | Fatigue |
Multiple mtDNA deletions | NA | 3 | Ptosis/CPEO/dysarthria/ataxia |
Mitochondrial DNA genotype . | Percentage heteroplasmy in muscle . | Years that deafness preceded diabetes . | Clinical features at time of presentation with diabetes . |
---|---|---|---|
m.8344A>G | 90 | 13 | Ptosis/dysarthria/ataxia |
m.12258C>A | 85 | 0 | None |
m.12258C>A | 68 | 16 | Mild constipation/dysarthria/fatigue |
Single mtDNA deletion | ND | 9 | Ptosis/CPEO/dysarthria/ataxia |
Single mtDNA deletion | 50 | 12 | Ptosis/CPEO/dysarthria/ataxia |
Single mtDNA deletion | ND | 15 | Ptosis/dysarthria/mild ataxia |
Single mtDNA deletion | 10 | 4 | Fatigue |
Multiple mtDNA deletions | NA | 3 | Ptosis/CPEO/dysarthria/ataxia |
CPEO, chronic progressive external ophthalmoplegia; NA, not applicable; ND, not determined.