Cox, P M

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