Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review. [electronic resource]
Producer: 20171024Description: 1580-4 p. digitalISSN:- 1552-4833
- Alleles
- Charcot-Marie-Tooth Disease -- diagnosis
- Diaphragm -- physiopathology
- Female
- GTP Phosphohydrolases -- genetics
- Genes, Recessive
- Genetic Association Studies
- Genotype
- High-Throughput Nucleotide Sequencing
- Humans
- Infant
- Mitochondrial Proteins -- genetics
- Muscle Weakness -- genetics
- Mutation
- Pedigree
- Phenotype
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Publication Type: Case Reports; Journal Article; Review
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