%0 Journal Article %A F Kueppers %A G Utz %A B Simon %T Alpha1-antitrypsin deficiency with M-like phenotype. %D 1977 %R 10.1136/jmg.14.3.183 %J Journal of Medical Genetics %P 183-186 %V 14 %N 3 %X A patient with a low serum concentration of alpha1-antitrypsin (0-1 g/l) but with an M-like phenotype is described. Her parents and 2 sibs have a PIM phenotype, but all except the father have approximately half-normal levels of alpha1-antitrypsin: The M-like variant apparently cannot be distinguished from M-alpha1-antitrypsin, when it occurs with M in heterozygotes. The proposita has severe airways obstruction and emphysema, and her father has moderate chronic obstructive pulmonary disease. The mother and 2 sibs are healthy. %U https://jmg.bmj.com/content/jmedgenet/14/3/183.full.pdf