B H Kiyomoto1, C H Tengan, C K Costa, A S Oliveira, B Schmidt, A A Gabbai. 1. 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
Abstract
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.
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.
Authors: R Horváth; H Lochmüller; C Scharfe; B H Do; P J Oefner; J Müller-Höcker; B G Schoser; D Pongratz; D P Auer; M Jaksch Journal: J Med Genet Date: 2003-10 Impact factor: 6.318
Authors: R Schröder; S Vielhaber; F R Wiedemann; C Kornblum; A Papassotiropoulos; P Broich; S Zierz; C E Elger; H Reichmann; P Seibel; T Klockgether; W S Kunz Journal: J Neuropathol Exp Neurol Date: 2000-05 Impact factor: 3.685
Authors: David B Olsen; Annika R Langkilde; Mette C Ørngreen; Eigil Rostrup; Marianne Schwartz; John Vissing Journal: J Neurol Date: 2003-11 Impact factor: 4.849