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:C0231807 (
exertional dyspnea
)
3,402
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A twenty-year old male presented with diffuse limb muscle weakness and
exertional dyspnea
since childhood. The diagnosis of nemaline myopathy was given based on the muscle pathology findings that revealed nemaline rods on light and electron microscopy and discovery of a novel mutation, E239K, in
ACTA1
. Incidentally, the patient had hypertrophic cardiomyopathy (HCM) as shown by echocardiography. In nemaline myopathy, a few cases of HCM have been reported, albeit rarely and always fatal, but only one patient had
ACTA1
mutation. This present report describes an infantile onset of nemaline myopathy with a milder clinical course and non-fatal HCM as compared with previous cases, showing clinical diversity in skeletal and cardiac manifestations of conditions associated with
ACTA1
mutations.
...
PMID:Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation. 2157 Jun 94
