Mitochondrial encephalomyopathies and related syndromes: Brief review

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Abstract

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.

Original languageEnglish
Title of host publicationEndocrine Development
Pages38-52
Number of pages15
Volume14
DOIs
Publication statusPublished - 2009

Publication series

NameEndocrine Development
Volume14
ISSN (Print)14217082
ISSN (Electronic)16622979

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ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health
  • Endocrine and Autonomic Systems

Cite this

Bertini, E., & D'Amico, A. (2009). Mitochondrial encephalomyopathies and related syndromes: Brief review. In Endocrine Development (Vol. 14, pp. 38-52). (Endocrine Development; Vol. 14). https://doi.org/10.1159/000207439