Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. [electronic resource]
Producer: 20160531Description: 5109-14 p. digitalISSN:- 1460-2083
- Adult
- Exome
- GTP Phosphohydrolases -- genetics
- Genetic Association Studies
- High-Throughput Nucleotide Sequencing
- Homozygote
- Humans
- Lipomatosis, Multiple Symmetrical -- complications
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Mitochondrial Proteins -- genetics
- Mutation
- Nervous System Diseases -- etiology
- Phenotype
- Siblings
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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