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:3.4.22.54 (
calpain 3
)
430
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mutations in the gene encoding muscle-specific
calpain 3
protease cause limb girdle muscular dystrophy type 2A. Calpainopathy is characterised by progressive symmetrical atrophy of pelvic, scapular and trunk muscles with an elevated creatine kinase. Most patients develop symptoms in childhood and lose the ability to walk by the age of 40 years. We describe a man who presented with
foot drop
at the age of 41 years, together with neurophysiological, histopathological and genetic data. This is the first report of calpainopathy presenting as
foot drop
, and widens the phenotype associated with this disease.
...
PMID:Calpainopathy presenting as foot drop in a 41 year old. 2058 Sep 76
