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Angelini, Corrado

Genetic Neuromuscular Disorders

Angelini, Corrado - Genetic Neuromuscular Disorders, ebook

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ISBN: 9783319564548
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Table of contents

Part I. Muscular Dystrophies

1. Duchenne Muscular Dystrophy
Corrado Angelini

2. Duchenne Muscular Dystrophy Carrier
Corrado Angelini

3. Becker Muscular Dystrophy
Corrado Angelini

4. Emery-Dreifuss Muscular Dystrophy Type 1
Corrado Angelini

5. Emery-Dreifuss Muscular Dystrophy Type 2
Corrado Angelini

6. Emery-Dreifuss Muscular Dystrophy Type 4
Corrado Angelini

7. Limb-Girdle Muscular Dystrophy Type 1A
Corrado Angelini

8. Limb-Girdle Muscular Dystrophy Type 1B
Corrado Angelini

9. Limb-Girdle Muscular Dystrophy Type 1C
Corrado Angelini

10. Limb-Girdle Muscular Dystrophy Type 1F
Corrado Angelini

11. Limb-Girdle Muscular Dystrophy Type 2A
Corrado Angelini

12. Limb-Girdle Muscular Dystrophy Type 2B
Corrado Angelini

13. Limb-Girdle Muscular Dystrophy Type 2C
Corrado Angelini

14. Limb-Girdle Muscular Dystrophy Type 2D
Corrado Angelini

15. Limb-Girdle Muscular Dystrophy Type 2E
Corrado Angelini

16. Limb-Girdle Muscular Dystrophy Type 2F
Corrado Angelini

17. Limb-Girdle Muscular Dystrophy Type 2H
Corrado Angelini

18. Limb-Girdle Muscular Dystrophy Type 2I
Corrado Angelini

19. Limb-Girdle Muscular Dystrophy Type 2J
Corrado Angelini

20. Limb-Girdle Muscular Dystrophy Type 2K
Corrado Angelini

21. Limb-Girdle Muscular Dystrophy Type 2L
Corrado Angelini

22. Limb-Girdle Muscular Dystrophy Type 2N
Corrado Angelini

23. Limb-Girdle Muscular Dystrophy with Epidermolysis Bullosa Simplex
Corrado Angelini

24. Limb-Girdle Muscular Dystrophy Type 2T
Corrado Angelini

25. Congenital Muscular Dystrophy Type 1A
Corrado Angelini

26. Congenital Muscular Dystrophy Type 1C
Corrado Angelini

27. Fukuyama Congenital Muscular Dystrophy: Walker-Warburg Syndrome
Corrado Angelini

28. Congenital Muscular Dystrophy with Rigid Spine
Corrado Angelini

29. Congenital Muscular Dystrophy with Integrin-Alpha-7 Deficiency
Corrado Angelini

30. Congenital Muscular Dystrophy: Ullrich Disease
Corrado Angelini

31. Bethlem Myopathy
Corrado Angelini

32. Facioscapulohumeral Muscular Dystrophy Type 1A
Corrado Angelini

33. Facioscapulohumeral Muscular Dystrophy Type 2
Corrado Angelini

34. Oculopharyngeal Muscular Dystrophy
Corrado Angelini

35. Scapuloperoneal Myopathy
Corrado Angelini

Part II. Congenital Myopathies

36. Congenital Multiminicore Myopathy
Corrado Angelini

37. Congenital Central Core Myopathy with Malignant Hyperthermia
Corrado Angelini

38. Congenital Centronuclear Myopathy Type 1
Corrado Angelini

39. Congenital Hyaline Body Myopathy
Corrado Angelini

40. Congenital Myotubular Myopathy
Corrado Angelini

41. Congenital Nemaline Myopathy Type 1
Corrado Angelini

42. Congenital Nemaline Myopathy Type 2
Corrado Angelini

43. Congenital Fiber-Type Disproportion Type 1
Corrado Angelini

44. Congenital Fiber-Type Disproportion
Corrado Angelini

45. Congenital Myofibrillar Myopathy Type 1
Corrado Angelini

46. Congenital Myofibrillar Myopathy Type 2
Corrado Angelini

47. Congenital Myofibrillar Myopathy Type 5
Corrado Angelini

48. Congenital Myofibrillar Myopathy Type 6
Corrado Angelini

49. Congenital Tubular Aggregate Myopathy
Corrado Angelini

50. Vacuolar Myopathy with Calsequestrin Aggregates
Corrado Angelini

51. Hereditary Inclusion Body Myopathy Type 2
Corrado Angelini

Part III. Ion Channel Disorders

52. Myotonic Dystrophy Type 1, Steinert Disease
Corrado Angelini

53. Congenital Myotonic Dystrophy
Corrado Angelini

54. Myotonic Dystrophy Type 2, Proximal Myotonic Myopathy
Corrado Angelini

55. Congenital Myotonia, Thomsen Disease
Corrado Angelini

56. Hyperkalemic Periodic Paralysis
Corrado Angelini

57. Hypokalemic Periodic Paralysis Type 1
Corrado Angelini

58. Slow-Channel Congenital Myasthenic Syndrome
Corrado Angelini

59. Congenital Myasthenic Syndrome Type 9
Corrado Angelini

60. Congenital Myasthenic Syndrome
Corrado Angelini

61. Congenital Myasthenic Syndrome Type 11
Corrado Angelini

62. Brody Disease
Corrado Angelini

Part IV. Metabolic Myopathies

63. Glycogenosis Type 2, Pompe Disease
Corrado Angelini

64. Glycogenosis Type 3, Cori-Forbes Disease
Corrado Angelini

65. Glycogenosis Type 4, Andersen Disease
Corrado Angelini

66. Glycogenosis Type 5, McArdle Disease
Corrado Angelini

67. Glycogenosis Type 7, Tarui Disease
Corrado Angelini

68. Danon Disease
Corrado Angelini

69. Polyglucosan Body Myopathy Type 2
Corrado Angelini

70. Kearns-Sayre Syndrome
Corrado Angelini

71. Chronic Progressive External Ophthalmoplegia
Corrado Angelini

72. MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-Like Episodes)
Corrado Angelini

73. Leigh Syndrome due to COX Deficiency
Corrado Angelini

74. Mitochondrial Encephalomyopathy with COX Deficiency
Corrado Angelini

75. Mitochondrial Complex I Deficiency due to ACAD9 Deficiency
Corrado Angelini

76. Coenzyme Q10 Deficiency
Corrado Angelini

77. Multiple Symmetric Lipomatosis
Corrado Angelini

78. NARP (Neuropathy, Ataxia, Retinitis Pigmentosa)
Corrado Angelini

79. SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis)
Corrado Angelini

80. Systemic Primary Carnitine Deficiency
Corrado Angelini

81. Neutral Lipid Storage Disease with Ichthyosis, Chanarin-Dorfman Syndrome
Corrado Angelini

82. Neutral Lipid Storage Disease with Myopathy
Corrado Angelini

83. Multiple Acyl-CoA Dehydrogenase Deficiency
Corrado Angelini

84. Carnitine Palmitoyltransferase II Deficiency
Corrado Angelini

85. Niemann-Pick Disease Type C1
Corrado Angelini

Part V. Neurogenic Disorders

86. Spinal Muscular Atrophy Type 1, Werdnig-Hoffmann Disease
Corrado Angelini

87. Spinal Muscular Atrophy Type 2, Werdnig-Hoffmann Disease
Corrado Angelini

88. Spinal Muscular Atrophy Type 3, Kugelberg-Welander Disease
Corrado Angelini

89. Spinal Bulbar Muscular Atrophy, Kennedy Disease
Corrado Angelini

90. Charcot-Marie-Tooth Disease, Type 1A
Corrado Angelini

91. Charcot-Marie-Tooth Disease, Type 1B
Corrado Angelini

92. Charcot-Marie-Tooth Disease, Neuronal Type
Corrado Angelini

93. Charcot-Marie-Tooth Disease, Type 4A
Corrado Angelini

94. Charcot-Marie-Tooth Neuropathy with Pyramidal Features
Corrado Angelini

95. Charcot-Marie-Tooth Disease, Type X1
Corrado Angelini

96. Distal Spinal Muscular Atrophy
Corrado Angelini

97. Hereditary Neuropathy with Pressure Palsies
Corrado Angelini

98. Distal Hereditary Motor Neuropathy Type 2C
Corrado Angelini

99. Friedreich’s Ataxia
Corrado Angelini

100. Spastic Ataxia, Charlevoix-Saguenay Type
Corrado Angelini

101. Ataxia-Telangiectasia, Louis-Bar Syndrome
Corrado Angelini

102. Spastic Paraparesis Type 4
Corrado Angelini

103. Spastic Paraparesis Type 7
Corrado Angelini

104. Optic Atrophy Plus Syndrome
Corrado Angelini

105. Amyotrophic Lateral Sclerosis Type 1
Corrado Angelini

106. Amyotrophic Lateral Sclerosis Type 2, Juvenile
Corrado Angelini

107. Amyotrophic Lateral Sclerosis
Corrado Angelini

Keywords: Medicine & Public Health, Neurology

Author(s)
Publisher
Springer
Publication year
2018
Language
en
Edition
2nd ed. 2018
Category
Medicine, Health Care, Mode
Format
Ebook
eISBN (PDF)
9783319564548
Printed ISBN
978-3-319-56453-1

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