Genetic neuromuscular disorders : a case-based approach

Genetic neuromuscular disorders : a case-based approach /

This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differenti...

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Bibliographic Details
Online Access: Full text (MCPHS users only)
Main Author: Angelini, C. (Corrado)
Format: Electronic eBook
Language:English
Published: Cham : Springer, 2018
Edition:2nd ed.
Subjects:
Neuromuscular diseases > Genetic aspects.
Local Note:ProQuest Ebook Central
Table of Contents:
  • Foreword
  • Contents
  • Part I: Muscular Dystrophies
  • 1: Duchenne Muscular Dystrophy
  • Description
  • Case Report
  • Laboratory Exams
  • Key Points
  • References
  • 2: Duchenne Muscular Dystrophy Carrier
  • Description
  • Case Report
  • Laboratory Exams
  • Key Points
  • References
  • 3: Becker Muscular Dystrophy
  • Description
  • Case Reports
  • Patient 1 (Fig. Â 3.1)
  • Patient 2 (Fig. Â 3.1)
  • Patient 3 (Fig. Â 3.1)
  • Patient 4 (Fig. Â 3.1)
  • Patient 5 (Fig. Â 3.1)
  • Patient 6 (Fig. Â 3.1)
  • Laboratory Exam
  • Key PointsReferences
  • 4: Emery-Dreifuss Muscular Dystrophy Type 1
  • Description
  • Case Report
  • Laboratory Exam
  • Key Points
  • References
  • 5: Emery-Dreifuss Muscular Dystrophy Type 2
  • Description
  • Case Report
  • Patient 1
  • Patient 2
  • Laboratory Exam
  • Patient 1
  • Patient 2
  • Key Points
  • References
  • 6: Emery-Dreifuss Muscular Dystrophy Type 4
  • Description
  • Case Report
  • Patient 1
  • Patient 2
  • Patient 3
  • Laboratory Exam
  • Key Points
  • References
  • 7: Limb-Girdle Muscular Dystrophy Type 1A Description
  • Case Report
  • Patient 1
  • Family 2
  • Laboratory Exam
  • Patient 1
  • Family 2
  • Key Points
  • References
  • 8: Limb-Girdle Muscular Dystrophy Type 1B
  • Description
  • Case Report
  • Laboratory Exams
  • Key Points
  • References
  • 9: Limb-Girdle Muscular Dystrophy Type 1C
  • Description
  • Case Reports
  • Patient 1
  • Patient 2
  • Patient 3
  • Laboratory Exams
  • Patient 1
  • Patient 2
  • Patient 3
  • Key Points
  • References
  • 10: Limb-Girdle Muscular Dystrophy Type 1F Description
  • Case Report
  • Patient 1
  • Patient 2
  • Laboratory Exams
  • Key Points
  • References
  • 11: Limb-Girdle Muscular Dystrophy Type 2A
  • Description
  • Case Reports
  • Patient 1
  • Patient 2
  • Patient 3
  • Laboratory Exams
  • Patient 1
  • Patient 2
  • Patient 3
  • Key Points
  • References
  • 12: Limb-Girdle Muscular Dystrophy Type 2B
  • Description
  • Case Report
  • Patient 1
  • Family 2
  • Key Points
  • References
  • 13: Limb-Girdle Muscular Dystrophy Type 2C Description
  • Case Report
  • Patient 1
  • Patient 2
  • Laboratory Exams
  • Patient 1
  • Patient 2
  • Key Points
  • References
  • 14: Limb-Girdle Muscular Dystrophy Type 2D
  • Description
  • Case Report
  • Patient 1
  • Patient 2
  • Laboratory Exam
  • Patient 1
  • Patient 2
  • Key Points
  • References
  • 15: Limb-Girdle Muscular Dystrophy Type 2E
  • Description
  • Case Report
  • Patient 1
  • Patient 2
  • Patient 3
  • Laboratory Exams
  • Key Points
  • References

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