Skeletal Muscle Disease With Abnormal Mitochondria

Wijngaarden, G.K. van; Bethlem, J.; Meijer, A. E. F. H.; Hülsmann, W.C.; Feltkamp, Constance A.

doi:10.1093/brain/90.3.577

Cited by 115 publications

(21 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Ten other patients previously referred to as having "Hackett-Tarlow syndrome" { 10) or "juvenile mitochondrial myopathy" [32} have lactic acidemia and mitochondrial myopathy, often with growth failure [ 13,19,20,22,[24][25][26]28,39,41). This is a heterogeneous group of patients, not easily categorized.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

Pavlakis

Phillips

DiMauro

et al. 1984

Annals of Neurology

1,096

511

View full text Add to dashboard Cite

We report on two patients who have a mitochondrial myopathy, encephalopathy, lactic acidosis, and recurrent cerebral insults that resemble strokes (MELAS). These two and nine other reported patients share the following features: ragged red fibers evident on muscle biopsy, normal early development, short stature, seizures, and hemiparesis, hemianopia, or cortical blindness. Lactic acidemia is a common finding. We believe that MELAS represents a distinctive syndrome and that it can be differentiated from two other clinical disorders that also are associated with mitochondrial myopathy and cerebral disease: Kearns-Sayre syndrome and the myoclonus epilepsy ragged red fiber syndrome. Existing information suggests that MELAS is transmitted by maternal inheritance. The ragged red fibers suggest an abnormality of the electron transport system, but the precise biochemical disorders in these three clinical syndromes remain to be elucidated.

show abstract

Section: Discussionmentioning

confidence: 99%

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

Pavlakis

Phillips

DiMauro

et al. 1984

Annals of Neurology

1,096

511

View full text Add to dashboard Cite

show abstract

“…The first similar observa tions were reported by Luft et al [1962], Shy and G onatas [1964], Shy et al [1966], Z intz [1966], P rice et al [1967], and Van Wijngaarden [1967], These authors have classified pleioconial, megaconial myopathy as a separate disease. However, the characteristic crystalline inclusions have also been observed in muscular diseases of different etiology, in normal muscle tissues, and in other tissues as well.…”

Section: Discussionmentioning

confidence: 53%

Fine Structural Studies in Myasthenia gravis

et al. 1973

View full text Add to dashboard Cite

The authors carried out electron microscopic studies on muscle biopsy material from 23 patients suffering from myasthenia gravis, in order to show the fine structural changes occurring in the muscle fibres. Splitting of the central part of the sarcomeres and hyperplasia of Z formations were observed in some cases. Formations of concentrically arranged thin filaments were wide-spread. Pleioconial mitochondria containing various inclusions were noted, the lamellae of the crystalline inclusions being composed of granules of double helix configuration. No succino-dehydrogenase activity could be detected in crystalline-containing mitochondria by enzyme-cytochemical tests using the electron microscope. The nonspecificity of these alterations occurring in the muscle fibre organelles is stressed. The general picture reveals the biochemical nature and extent of the lesions, and gives an explanation of the structural changes associated with them.

show abstract

“…Recently, abnormalities of muscle mitochondria have been reported in patients with progressive external ophthalmoplegia syndrome [3][4][5]. Although there is only one report of anesthesia in a patient with mitochondrial myopathy [6], no report has been made on the anesthesia for progressive external ophthalmoplegia syndrome.…”

Section: Introductionmentioning

confidence: 99%