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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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Detalles Bibliográficos
Clasificación:	Libro Electrónico
Autor principal:	Angelini, C. (Corrado)
Formato:	Electrónico eBook
Idioma:	Inglés
Publicado:	Cham : Springer, ©2018.
Edición:	2nd ed.
Temas:	Neuromuscular diseases > Genetic aspects. Maladies neuromusculaires > Aspect génétique. Neuromuscular diseases > Genetic aspects
Acceso en línea:	Texto completo

Tabla de Contenidos:

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

Genetic neuromuscular disorders : a case-based approach /

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