Abstract
Twenty patients with myopathic mitochondrial DNA (mtDNA) depletion syndrome (MDS) were screened for mutations in thymidine kinase 2 (TK2) and deoxyguanosine kinase (dGK) genes at Columbia University, New York, NY.
Highlights
GENE EXPRESSION PROFILES OF INFLAMMATORY MYOPATHIES The simultaneous expression of 10,000 genes was measured, using
Standard clinical and histopathological methods of differentiation of various inflammatory myopathies (IM) are not always conclusive, and misclassification may result in inappropriate management
His sister, who presented with weakness and hypotonia in early infancy, episodic vomiting, failure to thrive, and metabolic acidosis, had a primary myopathy
Summary
GENE EXPRESSION PROFILES OF INFLAMMATORY MYOPATHIES The simultaneous expression of 10,000 genes was measured, using. Affymetrix GeneChip microarrays, in muscle specimens from 45 patients with various myopathies (dystrophy, congenital myopathy, and inflammatory myopathy) examined at Brigham and Women's Hospital, and Children's Hospital, Harvard Medical School, Boston, MA. Bioinformatics techniques were used to classify specimens from 14 patients with subtypes of inflammatory myopathy (IM) - dermatomyositis, polymyositis, and inclusion body myositis (IBM) - and to identify the gene profiles. (Greenberg SA, Sanoudou D, Haslett JN et al, Molecular profiles of inflammatory myopathies. (Reprints: Dr Steven A Greenberg, Department of Neurology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115). The advent of molecular profiling techniques should provide a more accurate classification of the various subtypes of IM and other muscle diseases.
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