Skip to main content
  • Book
  • © 2009

Inherited Neuromuscular Diseases

Translation from Pathomechanisms to Therapies

  • State of the art of neuromuscular diseases
  • Review of genetics of inherited neuromuscular diseases useful for prognosis, genetic counselling, prenatal diagnosis
  • New data about pathomechanisms to provide new drugs and therapies

Part of the book series: Advances in Experimental Medicine and Biology (AEMB, volume 652)

Buy it now

Buying options

eBook USD 169.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

This is a preview of subscription content, log in via an institution to check for access.

Table of contents (18 chapters)

  1. Front Matter

    Pages i-xiii
  2. Pathology and Diagnosis of Muscular Dystrophies

    • Carmen Navarro, Susana Teijeira, Beatriz San Millán
    Pages 1-11
  3. Diseases of the Human Mitochondrial Oxidative Phosphorylation System

    • Julio Montoya, Ester López-Gallardo, María Dolores Herrero-Martín, Íñigo Martínez-Romero, Aurora Gómez-Durán, David Pacheu et al.
    Pages 47-67
  4. Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes

    • Antonella Spinazzola, Massimo Zeviani
    Pages 69-84
  5. Mitochondrial Disorders Due to Nuclear OXPHOS Gene Defects

    • Cristina Ugalde, María Morán, Alberto Blázquez, Joaquín Arenas, Miguel A. Martín
    Pages 85-116
  6. Coenzyme Q10 Deficiencies in Neuromuscular Diseases

    • Rafael Artuch, Leonardo Salviati, Sandra Jackson, Michio Hirano, Plácido Navas
    Pages 117-128
  7. The Role of Mitochondrial Network Dynamics in the Pathogenesis of Charcot-Marie-Tooth Disease

    • Francesc Palau, Anna Estela, David Pla-Martín, Maribel Sánchez-Piris
    Pages 129-137
  8. Pathogenesis and Treatment of Mitochondrial Disorders

    • Salvatore DiMauro, Michio Hirano
    Pages 139-170
  9. Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication

    • José Berciano, Antonio García, Elena Gallardo, César Ramón, Onofre Combarros
    Pages 183-200
  10. Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes

    • Garth Nicholson, Marina Kennerson, Megan Brewer, James Garbern, Michael Shy
    Pages 201-206
  11. Natural History and Treatment of Peripheral Inherited Neuropathies

    • Davide Pareyson, Chiara Marchesi
    Pages 207-224
  12. Spinal Muscular Atrophy

    • Jérémie Vitte, Ruben Attali, Nasim Warwar, Irena Gurt, Judith Melki
    Pages 237-246
  13. Friedreich Ataxia: An Update on Animal Models, Frataxin Function and Therapies

    • Pilar González-Cabo, José Vicente Llorens, Francesc Palau, Maria Dolores Moltó
    Pages 247-261
  14. Genetics and Pathogenesis of Inherited Ataxias and Spastic Paraplegias

    • Carmen Espinós, Francesc Palau
    Pages 263-296
  15. Back Matter

    Pages 297-304

Editors and Affiliations

  • CIBERER-BIOBANK, Valencia, Spain

    Carmen Espinós

  • Lab. Neurobiología, Centro de Investigación Príncipe Felipe, Valencia, Spain

    Vicente Felipo

  • Inst. Biomedicina, CSIC Valencia, Valencia, Spain

    Francesc Palau

Bibliographic Information

Buy it now

Buying options

eBook USD 169.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access