Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. [electronic resource]
Producer: 20130905Description: 165-9 p. digitalISSN:- 1873-2364
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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