An unusual case of muscular limb-girdle dystrophy and mitochondrial myopathy.
Limb-girdle muscular weakness and wasting could be caused by different diseases (inflammatory and hereditary myopathies, muscular dystrophies and neurogenic atrophies). Among these, Limb-Girdle Muscular Dystrophy (LGMD) is an heterogeneous group of pathologies that have progressive proximal limbs and girdle weakness, with some dystrophic features by the muscle biopsy. We studied a case of LGMD in an adult man with a typical histological and histochemical profile, associated to a mitochondrial deficit characterized by presence of ragged-red fibers, a histochemical Cytochrome Oxidase deficiency and abnormal mitochondria by ultrastructure.
Calore
E E
EE
Instituto de Infectologia Emilio Ribas, Faculdade de Medicina da Universidade de São Paulo, Departemento de Patologia.
Cavaliere
M J
MJ
Wakamatsu
A
A
Perez
N M
NM
Maeda
M Y
MY
Russo
D H
DH
D000328:Adult; D030401:Cytochrome-c Oxidase Deficiency; D006801:Humans; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000473:pathology