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Article

Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2009

Tunc T, Mungan I A, Okulu E, Tiras S T, Tekin M, Atasay B, Arsan S, Turmen T

Abstract excerpt

The Fukuyama type congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder characterized by cranial, cerebellar and ocular malformations and congenital muscular dystrophy. Hyperekplexia is characterized by transient, generalized rigidity in response to unexpected loud noises or sudden tactile stimulation. Herein, we report an infant who had typical clinical features of FCMD with hyperekplexia....

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Identifiers

PMID: 19852435

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