Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

Ravenscroft, Gianina

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. [electronic resource] - Neuromuscular disorders : NMD Feb 2013 - 165-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1873-2364

10.1016/j.nmd.2012.11.005 doi


Abnormalities, Multiple--diagnosis
Amino Acid Sequence
Arthrogryposis--diagnosis
Australia
Biopsy
Exome--genetics
Fatal Outcome
Female
Genotype
Glycogen Debranching Enzyme System--genetics
Glycogen Storage Disease--diagnosis
Humans
Infant, Newborn
Male
Malignant Hyperthermia--diagnosis
Molecular Sequence Data
Muscle, Skeletal--pathology
Mutation, Missense--genetics
Pedigree
Phenotype
Skin Abnormalities--diagnosis