Serum myoglobin in muscular dystrophy and carrier detection. 1981

L V Nicholson

Serum myoglobin was measured by radioimmunoassay in 143 patients with various muscle diseases including 55 boys with Duchenne dystrophy, 56 carriers of the Duchenne dystrophy gene, 8 carriers of the Becker dystrophy gene, 60 first-degree relatives of patients with sporadic (non-genetically transmitted) muscle diseases and 85 normal controls. A significant difference (P less than 0.001) was found between the serum myoglobin levels in normal control men (x = 31.7 range 10-70 microgram/l) and those in women (x = 17.2 range 4-27 microgram/l) but no difference was found between the controls and relatives of patients with muscle disease. Up to the age of 60 years, no correlation was found between age and serum myoglobin levels in controls. However, levels in boys with Duchenne dystrophy were found to increase slightly up to the age of 10 years and to decrease thereafter. No correlation was found between serum myoglobin and creatine kinase activity in these boys but in Duchenne carriers correlation was close (P less than 0.001). Eighteen of 23 definite and 13 of 33 possible carriers of Duchenne dystrophy had myoglobin concentrations above the equivalent normal range. Of those carriers with elevated myoglobin levels, 7 definite and 4 possible carriers had normal serum creatine kinase activity. This was equivalent to an improvement in "detection" of 31% and 12% in these groups of carriers. Of the 8 Becker dystrophy carriers, 6 had elevated myoglobin but all had normal creatine kinase levels. It appears that measurement of serum myoglobin as well as creatine kinase activity may be of great benefit to carrier detection programmers, but the need to establish accurately the extent of normal variation in women is emphasized.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D009211 Myoglobin A conjugated protein which is the oxygen-transporting pigment of muscle. It is made up of one globin polypeptide chain and one heme group.
D011863 Radioimmunoassay Classic quantitative assay for detection of antigen-antibody reactions using a radioactively labeled substance (radioligand) either directly or indirectly to measure the binding of the unlabeled substance to a specific antibody or other receptor system. Non-immunogenic substances (e.g., haptens) can be measured if coupled to larger carrier proteins (e.g., bovine gamma-globulin or human serum albumin) capable of inducing antibody formation. Radioimmunoassays
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003402 Creatine Kinase A transferase that catalyzes formation of PHOSPHOCREATINE from ATP + CREATINE. The reaction stores ATP energy as phosphocreatine. Three cytoplasmic ISOENZYMES have been identified in human tissues: the MM type from SKELETAL MUSCLE, the MB type from myocardial tissue and the BB type from nervous tissue as well as a mitochondrial isoenzyme. Macro-creatine kinase refers to creatine kinase complexed with other serum proteins. Creatine Phosphokinase,ADP Phosphocreatine Phosphotransferase,ATP Creatine Phosphotransferase,Macro-Creatine Kinase,Creatine Phosphotransferase, ATP,Kinase, Creatine,Macro Creatine Kinase,Phosphocreatine Phosphotransferase, ADP,Phosphokinase, Creatine,Phosphotransferase, ADP Phosphocreatine,Phosphotransferase, ATP Creatine
D005260 Female Females
D006580 Genetic Carrier Screening Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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