Abstract
The case of a 66-year-old woman with progressive external ophthalmoplegia and involvement of the proximal muscles of the upper and lower limbs is described. EMG examinations show signs of myopathic involvement. Histochemical and biochemical studies exclude a primary defect in glycogenolysis. The authors stress the peculiarity of the histochemical findings, characterized by the rare associated appearance of both mitochondrial changes and glycogen accumulation in muscle fibres. The most prominent ultrastructural findings are evidence of increased glycogen, usually present in vescicles or in mitochondria, and changes in number, size and structure of mitochondria. Quantitative biochemical examination of muscle homogenates confirmed the increased content of glycogen in muscle fibres. Copyright.
| Original language | English |
|---|---|
| Pages (from-to) | 440-444 |
| Number of pages | 5 |
| Journal | European Neurology |
| Volume | 20 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - 1981 |
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Keywords
- Glycogen storage
- Histochemical and ultrastructural studies
- Mitochondrial myopathy
- Progressive external ophthalmoplegia
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
An ocular myopathy with glycogen storage and abnormal mitochondria in muscle fibres : Histochemical and ultrastructural findings. / Scelsi, Roberto; Marchetti, Carla; Faggi, Luigi; Sandrini, Giorgio; Rocchelli, Bruno.
In: European Neurology, Vol. 20, No. 6, 1981, p. 440-444.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - An ocular myopathy with glycogen storage and abnormal mitochondria in muscle fibres
T2 - Histochemical and ultrastructural findings
AU - Scelsi, Roberto
AU - Marchetti, Carla
AU - Faggi, Luigi
AU - Sandrini, Giorgio
AU - Rocchelli, Bruno
PY - 1981
Y1 - 1981
N2 - The case of a 66-year-old woman with progressive external ophthalmoplegia and involvement of the proximal muscles of the upper and lower limbs is described. EMG examinations show signs of myopathic involvement. Histochemical and biochemical studies exclude a primary defect in glycogenolysis. The authors stress the peculiarity of the histochemical findings, characterized by the rare associated appearance of both mitochondrial changes and glycogen accumulation in muscle fibres. The most prominent ultrastructural findings are evidence of increased glycogen, usually present in vescicles or in mitochondria, and changes in number, size and structure of mitochondria. Quantitative biochemical examination of muscle homogenates confirmed the increased content of glycogen in muscle fibres. Copyright.
AB - The case of a 66-year-old woman with progressive external ophthalmoplegia and involvement of the proximal muscles of the upper and lower limbs is described. EMG examinations show signs of myopathic involvement. Histochemical and biochemical studies exclude a primary defect in glycogenolysis. The authors stress the peculiarity of the histochemical findings, characterized by the rare associated appearance of both mitochondrial changes and glycogen accumulation in muscle fibres. The most prominent ultrastructural findings are evidence of increased glycogen, usually present in vescicles or in mitochondria, and changes in number, size and structure of mitochondria. Quantitative biochemical examination of muscle homogenates confirmed the increased content of glycogen in muscle fibres. Copyright.
KW - Glycogen storage
KW - Histochemical and ultrastructural studies
KW - Mitochondrial myopathy
KW - Progressive external ophthalmoplegia
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U2 - 10.1159/000115276
DO - 10.1159/000115276
M3 - Article
VL - 20
SP - 440
EP - 444
JO - European Neurology
JF - European Neurology
SN - 0014-3022
IS - 6
ER -