Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA.
In a 54-year-old woman with diabetes mellitus, hearing loss, muscle weakness and hypocalcemia, caused by idiopathic hypoparathyroidism, an A to G transition at the nucleotide position of 3243 (A3243G mutation) was found in the mitochondrial DNA from her leukocytes. Clinical features of diabetes mellitus and hearing loss in association with the A3243G mutation are compatible with a diagnosis of maternally inherited diabetes and deafness (MIDD). Although hypoparathyroidism is rarely seen in MIDD, we consider that hypoparathyroidism in this patient is a possible phenotype caused by the A3243G mutation of mitochondrial DNA.
Tanaka
K
K
Department of Internal Medicine, Saijo Central Hospital, Ehime.
Takada
Y
Y
Matsunaka
T
T
Yuyama
S
S
Fujino
S
S
Maguchi
M
M
Yamashita
S
S
Yuba
I
I
D002118:Calcium / Q000097:blood; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000097:blood / Q000235:genetics*; D003920:Diabetes Mellitus / Q000097:blood / Q000235:genetics*; D005260:Female; D006801:Humans; D006996:Hypocalcemia / Q000097:blood / Q000235:genetics*; D007011:Hypoparathyroidism / Q000097:blood / Q000235:genetics; D008875:Middle Aged; D018908:Muscle Weakness / Q000097:blood / Q000235:genetics*; D010281:Parathyroid Hormone / Q000097:blood; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation
D017931:DNA Primers; D004272:DNA, Mitochondrial; D010281:Parathyroid Hormone; D002118:Calcium