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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...

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Source

Identifiers

PMID: 19852435

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19852435-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy.PMID 19852435Read ↗

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[Fukuyama type congenital muscular dystrophy].Semantic proximity Read ↗

Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy.Semantic proximity Read ↗

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