TY  - GEN
AU  - Sawyer,Sarah L
AU  - Cheuk-Him Ng,Andy
AU  - Innes,A Micheil
AU  - Wagner,Justin D
AU  - Dyment,David A
AU  - Tetreault,Martine
AU  - Majewski,Jacek
AU  - Boycott,Kym M
AU  - Screaton,Robert A
AU  - Nicholson,Garth
TI  - Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy
SN  - 1460-2083
PY  - 2016///0531
KW  - Adult
KW  - Exome
KW  - GTP Phosphohydrolases
KW  - genetics
KW  - Genetic Association Studies
KW  - High-Throughput Nucleotide Sequencing
KW  - Homozygote
KW  - Humans
KW  - Lipomatosis, Multiple Symmetrical
KW  - complications
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Middle Aged
KW  - Mitochondrial Proteins
KW  - Mutation
KW  - Nervous System Diseases
KW  - etiology
KW  - Phenotype
KW  - Siblings
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddv229
ER  -