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Pediatric and Developmental Pathology
Published in: Pediatric and Developmental Pathology 6/2004

01-12-2004 | Symposium on Mitochondrial Disease

Mitochondrial Muscle Pathology

Author: Kathleen Patterson

Published in: Pediatric and Developmental Pathology | Issue 6/2004

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Excerpt

A 16-year-old boy presented with ptosis that had been noted first on school photographs taken 5 years previously. He was an otherwise healthy boy who had a history of learning difficulties that required special education. The ptosis persisted despite 2 attempts at surgical repair. Ophthalmologic examination uncovered concomitant ophthalmoplegia and retinal pigment changes. Mitochondrial DNA studies on his blood were normal. The ophthalmologist then referred the patient to a geneticist who suggested a muscle biopsy to further evaluate his neuromuscular status. …
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Metadata
Title
Mitochondrial Muscle Pathology
Author
Kathleen Patterson
Publication date
01-12-2004
Publisher
Springer-Verlag
Published in
Pediatric and Developmental Pathology / Issue 6/2004
Print ISSN: 1093-5266
Electronic ISSN: 1615-5742
DOI
https://doi.org/10.1007/s10024-004-5051-4

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