摘要:Summarises the advances in human mitochondrial genetics made over the past decade and a half. In order to make sense of the diversity of mitochondrial disease the reader is first treated to a review of mitochondrial DNA metabolism and normal mitochondrial function. The core of the book details specific mitochondrial and nuclear mutations and the diseases they cause, whilst at the same time providing further insight into mitochondrial function. Later sections assess the role of cellular and animal models in advancing our understanding of mitochondrial diseases and the prospects for novel therapeutic strategies to combat these enigmatic disorders. This book will also appeal to scientific and medical geneticists, and to registrars who encounter this group of diseases in the clinic.
