TY  - GEN
AU  - Ravenscroft,Gianina
AU  - Thompson,Elizabeth M
AU  - Todd,Emily J
AU  - Yau,Kyle S
AU  - Kresoje,Nina
AU  - Sivadorai,Padma
AU  - Friend,Kathryn
AU  - Riley,Kate
AU  - Manton,Nicholas D
AU  - Blumbergs,Peter
AU  - Fietz,Michael
AU  - Duff,Rachael M
AU  - Davis,Mark R
AU  - Allcock,Richard J
AU  - Laing,Nigel G
TI  - Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations
SN  - 1873-2364
PY  - 2013///0905
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Amino Acid Sequence
KW  - Arthrogryposis
KW  - Australia
KW  - Biopsy
KW  - Exome
KW  - genetics
KW  - Fatal Outcome
KW  - Female
KW  - Genotype
KW  - Glycogen Debranching Enzyme System
KW  - Glycogen Storage Disease
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Malignant Hyperthermia
KW  - Molecular Sequence Data
KW  - Muscle, Skeletal
KW  - pathology
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Skin Abnormalities
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.nmd.2012.11.005
ER  -