title: Diagnostic yield muscle biopsy in patients with clinical evidence of mitochondrial cytopathy.
abstract: We retrospectively reviewed 118 muscle biopsy specimens from 113 patients with clinical and/or biochemical evidence of mitochondrial cytopathy. Light microscopic evaluation revealed histologic abnormalities in 65 specimens. The most common histologic findings included angular atrophic esterase-positive muscle fibers, type II muscle atrophy, regenerating muscle fibers, and scattered cytochrome-oxidase deficient fibers. Ragged red fibers were noted in 3 specimens on a Gomori trichrome stain. Electron microscopic evaluation was performed in 113 muscle specimens, and in 34, no abnormalities were identified. Increased numbers of mitochondria, particularly in the subsarcolemmal region, were identified in 54 specimens. Increased mitochondrial size was seen in 8 specimens and paracrystalline mitochondrial inclusions in 3. Other ultrastructural findings included focally increased glycogen deposition, focal Z-band streaming, and focally increased lipid accumulation. For 39 cases, concomitant skin biopsy specimens were available; abnormalities were identified by electron microscopy in 12. The majority of biopsy specimens demonstrated some light or electron microscopic abnormality. Specific histologic findings suggestive of mitochondrial abnormalities (partial cytochrome oxidase deficiency, ragged red fibers) were noted in a minority of cases. Ultrastructural evidence of mitochondrial abnormalities was noted in the majority of cases.
authors.affiliation: Ohio State University College of Medicine and Public Health, Cleveland, USA.
authors.forename: S
authors.initials: S
authors.lastname: Rollins
authors.forename: R A
authors.initials: RA
authors.lastname: Prayson
authors.forename: J T
authors.initials: JT
authors.lastname: McMahon
authors.forename: B H
authors.initials: BH
authors.lastname: Cohen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003576:Electron Transport Complex IV / Q000378:metabolism; D004950:Esterases / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000648:ultrastructure*; D017240:Mitochondrial Myopathies / Q000201:enzymology / Q000473:pathology*; D018485:Muscle Fibers, Skeletal / Q000201:enzymology / Q000473:pathology; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology*; D009133:Muscular Atrophy / Q000201:enzymology / Q000473:pathology; D020966:Muscular Disorders, Atrophic / Q000201:enzymology / Q000473:pathology; D012189:Retrospective Studies; D012867:Skin / Q000201:enzymology / Q000473:pathology
chemical_list: D003576:Electron Transport Complex IV; D004950:Esterases