Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0234166 (
Hyperekplexia
)
84
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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. Our purpose is to draw attention to this first report of concomitant
FCMD
and hyperekplexia.
...
PMID:Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy. 1985 35
