%0 Journal Article %A C Diesen %A A Saarinen %A H Pihko %A C Rosenlew %A B Cormand %A W B Dobyns %A J Dieguez %A L Valanne %A T Joensuu %A A-E Lehesjoki %T POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease %D 2004 %R 10.1136/jmg.2004.020701 %J Journal of Medical Genetics %P e115-e115 %V 41 %N 10 %U https://jmg.bmj.com/content/jmedgenet/41/10/e115.full.pdf