z-logo
Premium
Mitochondrial dysfunction in multiple symmetrical lipomatosis
Author(s) -
Berkovic Samuel F.,
Andermann Frederick,
Shoubridge Eric A.,
Carpenter Stirling,
Robitaille Yvon,
Andermann Eva,
Melmed Calvin,
Karpati George
Publication year - 1991
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410290519
Subject(s) - lipomatosis , central nervous system , pathology , medicine , mitochondrion , anatomy , biology , genetics
Multiple symmetrical lipomatosis is a striking clinical finding associated with a variety of peripheral and central nervous system abnormalities. We describe 4 unrelated patients with evidence of mitochondrial dysfunction in skeletal muscle. Multiple symmetrical lipomatosis is an additional, albeit unusual, manifestation of the expanding clinical spectrum of mitochondrial diseases.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here