Article
Infantile encephalopathy associated with the MELAS A3243G mutation.
The Journal of pediatrics - 1 Jun 1999
Sue C M, Bruno C, Andreu A L, Cargan A, Mendell J R, Tsao C Y, Luquette M, Paolicchi J, Shanske S, DiMauro S, De Vivo D C
Abstract excerpt
MELAS syndrome is typically characterized by normal early development and childhood-onset recurrent neurologic deficits (stroke-like episodes), seizures, short stature, lactic acidosis, and ragged red fibers on muscle biopsy specimens. It is usually, but not invariably, associated with the A3243G...
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