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:C0026827 (
hypotonia
)
5,860
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The spectrum of the adenosine monophosphate (AMP) deaminase deficiency ranges from asymptomatic carriers to patients who manifest exercise-induced muscle pain, occasionally rhabdomyolysis, and idiopathic hyperCKemia. However, previous to the introduction of molecular techniques, rare cases with congenital weakness and
hypotonia
have also been reported. We report a 6-month-old girl with the association of congenital muscle weakness and
hypotonia
, muscle deficiency of
adenosine monophosphate deaminase
, and the homozygous C to T mutation at nucleotide 34 of the
adenosine monophosphate deaminase
-1 gene. This observation indicates the possible existence of a primary
adenosine monophosphate deaminase
deficiency manifested by congenital muscle weakness and
hypotonia
.
...
PMID:Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant. 2134 8
