Summary
The four patients present an almost identical picture based on clinical, morphological and biochemical examination. The condition begins in the external ocular muscles and affects further the other cranial and skeletal muscles, the cardiac muscle, the retina (combined dystrophy of rods and cones), the CNS, the peripheral nervous system, the endocrine system and nerve VIII. The cause, although still unknown, is undoubtedly connected with the mitochondrial anomalies; the mitochondria show pathological changes in number, form, size and function.
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Bastiaensen, L.A.K., Jaspar, H.H.J. & Stadhouders, A.M. Ophthalmoplegia-plus. Doc Ophthalmol 46, 365–380 (1979). https://doi.org/10.1007/BF00142628
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DOI: https://doi.org/10.1007/BF00142628