Adult-onset of nemaline myopathy, associated with cores and abnormal mitochondria
โ Scribed by Dr. Rahman Pourmand; Dr. Biagio Azzarelli
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 331 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0148-639X
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โฆ Synopsis
Most congenital myopathies are characterized by the presence of a specific structural alteration in the muscle fibers. Classic examples are central core disease and nemaline myopathy. However, in rare cases, two or more structural changes coexist in the same muscle biopsy, or in two different muscles which are in the same patient.'.'."7.'0-'s Mixed myopathy (MM) is the term used for these associa t i o n ~. ~ Most MM occur in children and rarely in the adult age group.16 The aim of this report is to describe the clinical presentation and histopathological changes in a patient with adult-onset of nemaline rnyopathy in which cores and mitochondrial inclusions coexisted.
CASE HISTORY
A 53-year-old man had progressive muscle weakness for the past 5 years. His weakness began following a motor vehicle accident in 1973. He was diagnosed then as having Charcot-Marie-Tooth disease. He had normal developmental milestones and had no physical disability or restriction in participating in sports in his earlier life. He was noted to have high-arched feet with hammer-toe deformity as long as he could remember. Family history was negative for any neuromuscular diseases. On examination he had high-arched feet and palate with hammer-toe deformity. He had moderate From the Departments of Neurology (Dr.
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