title: Myoglobin, creatine kinase and creatine kinase subunit-beta in serum from patients and relatives with hypokaliaemic familial periodic paralysis.
abstract: Increased levels of serum myoglobin (S-myoglobin) were found in 6 investigated patients with hypokaliaemic familial periodic paralysis (hypoKPP) in their habitual condition. Furthermore, in 3 of the 6, increased levels of serum creatine kinase (S-CK) were found. These findings support the hypothesis that hypoKPP is a permanent myopathy, which is aggravated during attacks. It was found that 1 definite carrier had elevated S-myoglobin and among healthy relatives 6/11 had elevated S-myoglobin and 3/11 elevated S-CK. The use of S-myoglobin and S-CK for carrier detection is discussed.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003402:Creatine Kinase / Q000097:blood*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007008:Hypokalemia / Q000201:enzymology* / Q000235:genetics; D007527:Isoenzymes; D008297:Male; D008875:Middle Aged; D009211:Myoglobin / Q000097:blood*; D010245:Paralyses, Familial Periodic / Q000201:enzymology* / Q000235:genetics
chemical_list: D007527:Isoenzymes; D009211:Myoglobin; D003402:Creatine Kinase