Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis. [electronic resource]
- American journal of medical genetics Sep 1999
- 187-93 p. digital
Publication Type: Case Reports; Journal Article
0148-7299
10.1002/(sici)1096-8628(19990910)86:2<187::aid-ajmg20>3.0.co;2-7 doi
1,4-alpha-Glucan Branching Enzyme--metabolism Adult Age of Onset Family Health Fatal Outcome Female Genetic Variation Gestational Age Glycogen Storage Disease Type IV--enzymology Humans Hydrops Fetalis--genetics Muscle, Skeletal--pathology Muscular Diseases--congenital Pregnancy