Article
Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
American journal of medical genetics. Part A - 1 Jun 2016
Tan Christopher A, Rabideau Marina, Blevins Amy, Westbrook Marjorie Jody, Ekstein Tali, Nykamp Keith, Deucher Anne, Harper Amy, Demmer Laurie
Abstract excerpt
Pathogenic variants in the mitofusin 2 gene (MFN2) are the most common cause of autosomal dominant Charcot-Marie-Tooth (CMT2) disease, which is typically characterized by axonal sensorimotor neuropathy. We report on a 7-month-old white female with hypotonia, motor delay, distal weakness, and motor/sensory axonal neuropathy in which next-generation sequencing analysis identified compound heterozygous pathogenic...
Topics
- Alleles
- Charcot-Marie-Tooth Disease
- Diaphragm
- Female
- GTP Phosphohydrolases
- Genes, Recessive
- Genetic Association Studies
- Genotype
- High-Throughput Nucleotide Sequencing
- Humans