Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C1762617 (weakness)
37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a patient with methylcrotonyl-CoA carboxylase (MCC) deficiency (McKusick 210200) who suffered from severe muscle pain and physical disability, and propose that this disorder be considered in the differential diagnosis of adult patients presenting with muscle pain and weakness.
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PMID:Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult. 1643 8