Mitochondrial case studies : underlying mechanisms and diagnosis

Content: 
Front Matter,Copyright,Contributors,PrefaceEntitled to full textChapter 1 - Introduction: Mitochondrial Medicine, Pages 1-9, Bruce H. Cohen
Chapter 2 - Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS), Pages 13-29, S.E. Marin, R.H. Haas
Chapter 3 - MERRF: Myoclonus Epilepsy and Ragged Red Fibers, Pages 31-36, Bruce H. Cohen
Chapter 4 - Pearson Syndrome, Pages 37-42, Bruce H. Cohen
Chapter 5 - Kearns–Sayre Syndrome, Pages 43-47, Sumit Parikh
Chapter 6 - Chronic Progressive External Ophthalmoplegia (CPEO), Pages 49-53, Mark Tarnopolsky
Chapter 7 - Leber Hereditary Optic Neuropathy, Pages 55-64, Patrick Yu-Wai-Man, Patrick F. Chinnery
Chapter 8 - Leigh Syndrome, Pages 65-68, Sumit Parikh
Chapter 9 - Neuropathy, Ataxia, and Retinitis Pigmentosa, Pages 69-73, Mary Kay Koenig, Leon Grant
Chapter 10 - Maternally Inherited (Mitochondrial) Diabetes, Pages 75-81, Amy Goldstein
Chapter 11 - Sporadic Myopathy, Pages 83-89, Salvatore DiMauro, Kurenai Tanji
Chapter 12 - Pyruvate Dehydrogenase Complex Deficiency, Pages 93-101, Suzanne D. DeBrosse, Douglas S. Kerr
Chapter 13 - Friedreich Ataxia, Pages 103-112, Mary Kay Koenig
Chapter 14 - Nuclear Genetic Causes of Leigh and Leigh-Like Syndrome, Pages 113-126, James E. Davison, Shamima Rahman
Chapter 15 - Reversible Infantile Respiratory Chain Deficiency, Pages 127-133, Ulrike Schara, Adela Della Marina, Rita Horvath
Chapter 16 - Childhood Alpers-Huttenlocher Syndrome, Pages 135-148, Robert K. Naviaux
Chapter 17 - Juvenile Alpers-Huttenlocher Syndrome, Pages 149-158, Christopher Beatty, Russell P. Saneto
Chapter 18 - Chronic Progressive External Ophthalmoplegia Secondary to Nuclear-Encoded Mitochondrial Genes, Pages 159-169, Patrick Yu-Wai-Man
Chapter 19 - Infantile-Onset Spinocerebellar Ataxia (IOSCA), Pages 171-178, Tuula Lönnqvist, Pirjo Isohanni, Anders Paetau
Chapter 20 - MPV17-Related Hepatocerebral Mitochondrial DNA (mtDNA) Depletion Syndrome, Pages 179-185, Amy Goldstein
Chapter 21 - Mitochondrial DNA Depletion Syndromes Presenting in Childhood, Pages 187-198, Shana E. McCormack, Xiaowu Gai, Emily Place, Marni J. Falk
Chapter 22 - Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE), Pages 199-206, Michio Hirano, Beatriz García Díaz
Chapter 23 - TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form, Pages 207-213, Sirisak Chanprasert, Fernando Scaglia
Chapter 24 - Autosomal Dominant Optic Atrophy, Pages 215-223, Patrick Yu-Wai-Man, Patrick F. Chinnery
Chapter 25 - Childhood-Onset Peripheral Neuropathy with Cognitive Decline, Pages 225-234, Elizabeth M. McCormick, Russell P. Saneto, Marni J. Falk
Chapter 26 - Brain-Specific Mitochondrial Aminoacyl-tRNA Synthetase Disorders: Mitochondrial Arginyl-Transfer RNA Synthetase Deficiency, Pages 235-241, Russell P. Saneto
Chapter 27 - Mitochondrial Aminoacyl-tRNA Synthetase Disorders Not Generally Affecting Brain, Pages 243-249, Lisa Riley, John Christodoulou
Chapter 28 - Defects in Post-Transcriptional Modification of Mitochondrial Transferase RNA: A Patient with Possible Mitochondrial-tRNA Translation Optimization Factor 1, MTO1 Dysfunction, Pages 251-256, Russell P. Saneto
Chapter 29 - Complex I Deficiency, Pages 257-264, Mark Tarnopolsky, Rashid Alshahoumi
Chapter 30 - Complex II Deficiency: Leukoencephalopathy Due to Mutated SDHAF1, Pages 265-272, Simon Edvardson, Ann Saada (Reisch)
Chapter 31 - BCS1L Mutations as a Cause of Björnstad Syndrome–GRACILE Syndrome Complex III Deficiency, Pages 273-278, Bruce H. Cohen
Chapter 32 - Complex IV, Pages 279-285, Mark Tarnopolsky, Rashid Alshahoumi
Chapter 33 - Complex V Disorders, Pages 287-291, Mark Tarnopolsky, Rashid Alshahoumi
Chapter 34 - Primary Cerebellar CoQ10 Deficiency, Pages 293-297, Catarina M. Quinzii, Michio Hirano, Emanuele Barca
Chapter 35 - Multisystemic Infantile CoQ10 Deficiency with Renal Involvement, Pages 299-304, Catarina M. Quinzii, Mariana Loos
Index, Pages 305-316