Mitochondrial encephalomyopathies.
The mitochondrial diseases present with great heterogeneity. They are often multisystemic and vary considerably in age at onset, distribution of weakness, severity, and course. Only nonthyroidal hypermetabolism has a distinctive clinical presentation. Therefore, attempts at classification have generated some controversy. This article discusses the general classification that takes into account genetic and biochemical features, which has resulted from the fast pace of biochemical and molecular genetic investigations.
DiMauro
S
S
Department of Neurology, Columbia-Presbyterian Medical Center, New York, New York.
Bonilla
E
E
Lombes
A
A
Shanske
S
S
Minetti
C
C
Moraes
C T
CT
D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000235:genetics / Q000473:pathology*; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D004798:Enzymes / Q000378:metabolism*; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009132:Muscles / Q000473:pathology; D009468:Neuromuscular Diseases / Q000235:genetics / Q000473:pathology*; D013577:Syndrome
D004272:DNA, Mitochondrial; D004798:Enzymes