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: EC:4.1.2.13 (
aldolase
)
3,461
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A girl presents immediately post partum with postures and movements typical for severe muscular hypotonia (floppy infant). Her sucking and swallowing abilities are reduced. There is marked
drooling
. Broad alveolar ridges give the impression of a high-arched palate. Floppy infant-screening (muscle enzymes, EMG, NCV) was within normal ranges apart from a slight elevation of
aldolase
. Muscle biopsy performed at the age of two years revealed the diagnosis of nemaline myopathy. An onset of the disease with severe muscular hypotonia during neonatal period usually is linked with rapidly progressing, mostly lethal outcome. Our patient--in contrast--seems to suffer from a mild form.
...
PMID:[Nemaline myopathy: an unusual course]. 164 15
