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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.