Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial c.8344A>G Variant
Background. Multiple symmetric lipomatosis (MSL), also known as Madelung disease, is a rare adult-onset disorder characterized by benign lipomatosis usually localized to the nuchal and upper thoracic region. A subset of these patients has germline variants in mitochondrial DNA. Methods. Three siblin...
Saved in:
Main Authors: | Uththara Perera (Author), Brooke A. Kennedy BSc (Author), Robert A. Hegele MD, FRCPC, FACP (Author) |
---|---|
Format: | Book |
Published: |
SAGE Publishing,
2018-09-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Madelung disease (multiple symmetric lipomatosis)
by: Linda Ferreira Maximiano, et al.
Published: (2018) -
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys
by: Mariantonietta Capristo, et al.
Published: (2022) -
Lipomatose simétrica benigna Benign symmetric lipomatosis
by: Airton dos Santos Gon, et al.
Published: (2005) -
The problem of synonyms; Multiple Symmetric Lipomatosis, as an example
by: Khalid Al Aboud
Published: (2012) -
Symmetrical lipomatosis of tongue, misdiagnosed as primary amyloidosis
by: Sameer Al Diffalha, MD, et al.
Published: (2017)