Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

@article{Sawyer2015HomozygousMI,
  title={Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.},
  author={Sarah L. Sawyer and Andy Cheuk-Him Ng and A. Micheil Innes and Justin D. Wagner and David A Dyment and Martine T{\'e}treault and Jacek Majewski and Kym M. Boycott and Robert A. Screaton and Garth A. Nicholson},
  journal={Human molecular genetics},
  year={2015},
  volume={24 18},
  pages={
          5109-14
        }
}
Multiple symmetric lipomatosis (MSL) is a mitochondrial disorder with impaired brown fat metabolism that has been associated with MERRF mutations in some, but not all, patients. [] Key Result Whole-exome sequencing was performed on the siblings, and a rare, shared homozygous mutation in MFN2 (c.2119C>T: p.R707W) was identified. The mutation was not present in their healthy siblings. In silico programs predict it to be pathogenic, and heterozygous carriers of the MFN2 p.R707W substitution are known to have…

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