A brief and comprehensive review on mitochondrial cytopathies is reported showing the extreme clinical and genetic heterogeneity of these disorders. Syndromes of mitochondrial cytopathies encompass most of the medical specialties and diagnosis of mitochondrial cytopathies is complicated, needing the combination of multiple expertise: muscle morphology, neuroradiology, bio-chemistry (enzymology, chemical analysis), and genetics.
|Title of host publication||Endocrine Development|
|Number of pages||15|
|Publication status||Published - 2009|
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Pediatrics, Perinatology, and Child Health
- Endocrine and Autonomic Systems