TY  - GEN
AU  - Hedberg-Oldfors,Carola
AU  - Glamuzina,Emma
AU  - Ruygrok,Peter
AU  - Anderson,Lisa J
AU  - Elliott,Perry
AU  - Watkinson,Oliver
AU  - Occleshaw,Chris
AU  - Abernathy,Malcolm
AU  - Turner,Clinton
AU  - Kingston,Nicola
AU  - Murphy,Elaine
AU  - Oldfors,Anders
TI  - Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature
SN  - 1573-2665
PY  - 2017///1204
KW  - Adult
KW  - Biopsy
KW  - Cardiomyopathies
KW  - genetics
KW  - Glucans
KW  - Glucosyltransferases
KW  - deficiency
KW  - Glycogen
KW  - Glycogen Storage Disease
KW  - Glycoproteins
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Muscle, Skeletal
KW  - metabolism
KW  - Mutation, Missense
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10545-016-9978-1
ER  -