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Article

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

Human molecular genetics - 15 Sept 2015

Sawyer Sarah L, Cheuk-Him Ng Andy, Innes A Micheil, Wagner Justin D, Dyment David A, Tetreault Martine, Majewski Jacek, Boycott Kym M, Screaton Robert A, Nicholson Garth

Abstract excerpt

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. We studied a sibling pair and an unrelated indiviadual who presented with MSL and neuropathy to determine the genetic etiology of this disorder in patients who did not carry the MSL-associated MERRF mutation. Whole-exome sequencing was...

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Identifiers

PMID: 26085578
DOI: 10.1093/hmg/ddv229

Genes

MFN2

Variants

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