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. 1982 May;58(679):307–310. doi: 10.1136/pgmj.58.679.307

Kocher-Debré-Sémélaigne syndrome and congenital nystagmus

K Radhakrishnan, B N S Walia, K Venkateswarlu, S B S Mann
PMCID: PMC2426415  PMID: 7111122

Abstract

A 11-year-old boy with hypothyroidism developed generalized muscle hypertrophy and proximal muscular weakness. Electromyographic findings were suggestive of myopathy. He had had congenital nystagmus (CN) since early infancy. Although the association of childhood hypothyroidism and CN has been documented before, the triad of hypothyroidism, hypertrophic myopathy and CN exhibited by the patient is believed to be unique.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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