Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients.
BACKGROUND
There are few reports describing the coexistence of dystrophic features with those typical of mitochondrial myopathies in muscle biopsy. A recent study suggested that dystrophic features are frequent in patients with chronic progressive external ophthalmoplegia (CPEO) with a high mutation load, but the actual frequency of these abnormalities in CPEO remains undetermined.


OBJECTIVE
To review the occurrence of dystrophic abnormalities in a large series of patients with CPEO to assess the frequency of such abnormalities and to verify whether they are correlated with specific mitochondrial DNA (mtDNA) mutations.


METHODS
Retrospective survey of case series (86 patients with CPEO).


RESULTS
Only three cases with dystrophic abnormalities were found: two with a large scale mtDNA deletion and one with the A3251G mutation. All three patients showed predominantly proximal muscular weakness resembling limb girdle muscular dystrophy.


CONCLUSIONS
Dystrophic abnormalities are rare in CPEO and are not correlated with a specific molecular defect.
Universidade Federal de São Paulo, Escola Paulista de Medicina, Department of Neurology, Rua Pedro de Toledo 781, sétimo andar, 04039-032 São Paulo, Brazil. beatriz-neuro@pesquisa.epm.br
B H
BH
Kiyomoto
C H
CH
Tengan
C K
CK
Costa
A S
AS
Oliveira
B
B
Schmidt
A A
AA
Gabbai
D000328:Adult; D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000453:epidemiology*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000453:epidemiology*; D017354:Point Mutation / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D012189:Retrospective Studies
D004272:DNA, Mitochondrial; D003402:Creatine Kinase