MFN2-associated lipomatosis: clinical spectrum and impact on adipose tissue
E Capel, C Vatier, P Cervera, T Stojkovic… - Journal of clinical …, 2018 - Elsevier
Background Multiple symmetric lipomatosis (MSL) is characterized by upper-body
lipomatous masses frequently associated with metabolic and neurological signs. MFN2
pathogenic variants were recently implicated in a very rare autosomal recessive form of
MSL. MFN2 encodes mitofusin-2, a mitochondrial fusion protein previously involved in
Charcot-Marie-Tooth neuropathy. Objective To investigate the clinical, metabolic, tissular,
and molecular characteristics of MFN2-associated MSL. Methods We sequenced MFN2 in …
lipomatous masses frequently associated with metabolic and neurological signs. MFN2
pathogenic variants were recently implicated in a very rare autosomal recessive form of
MSL. MFN2 encodes mitofusin-2, a mitochondrial fusion protein previously involved in
Charcot-Marie-Tooth neuropathy. Objective To investigate the clinical, metabolic, tissular,
and molecular characteristics of MFN2-associated MSL. Methods We sequenced MFN2 in …
