Mitochondrial DNA deletion in oculoskeletal myopathy.
The case of a patient showing bilateral ophthalmoplegia with proximal limb weakness, severe dysphagia and short stature, without family history, is described. The diagnosis of Kearns-Sayre syndrome was excluded because of the absence of pigmentary retinopathy and of all other common manifestations except short stature. The analysis of mitochondrial DNA of the patient's muscle revealed a deleted form accounting for 65% of the total mitochondrial DNA. The deletion, undetectable in the mitochondrial DNA of peripheral blood leukocytes, was apparently indistinguishable from that already described by others in a far more severe form of classic Kearns-Sayre syndrome.
Merelli
E
E
Department of Neurology, University of Modena, Italy.
Selleri
L
L
Ferrari
S
S
Sola
P
P
Colombo
A
A
Torelli
G
G
D000328:Adult; D001345:Autoradiography; D015139:Blotting, Southern; D001827:Body Height; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000032:analysis*; D003680:Deglutition Disorders; D006801:Humans; D008297:Male; D009886:Ophthalmoplegia / Q000235:genetics*; D013577:Syndrome
D004272:DNA, Mitochondrial