Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During a six-year period, an adolescent girl developed a polyglandular disease characterized by hypoparathyroidism, chemical diabetes, growth failure and pubertal delay, hypercholesterolemia, and hypomagnesemia. A slowly progressive neurological disorder occurred simultaneously, consisting of progressive external ophthalmoplegia, mitochondrial myopathy, ataxia, neural deafness, mental subnormality, atypical retinitis, corneal dystrophy, cataract, and increased protein level in the cerebrospinal fluid. An intracardiac conduction defect was also found. This disorder, the cause of which is uncertain, is termed oculocraniosomatic disease. Our patient is apparently unique in that there was an associated hypoparathyroidism.
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PMID:Oculocraniosomatic neuromuscular disease with hypoparathyroidism. 84 67

The authors conducted a study in a family pedigree comprising 33 patients (men 16, women 17). In this pedigree there coexisted patients with progressive external ophthalmoplegia and corneal lattice dystrophy. Two patients with progressive external ophthalmoplegia and ten with lattice corneal dystrophy were found. One of our patients (propositus) suffered from both diseases. Our study proves that, in this pedigree, progressive external ophthalmoplegia and corneal lattice dystrophy have an autosomal dominant mode of inheritance.
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PMID:[Association of progressive external ophthalmoplegia and lattice corneal dystrophy]. 129 70