Genetic neuromuscular disorders : a case-based approach / Corrado Angelini.

Section 1 Muscular Dystrophies
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy carrier
Becker Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy type 1
Emery-Dreifuss Muscular Dystrophy type 2
Limb Girdle Muscular Dystrophy type 1B
Limb Girdle Muscular Dystrophy type 1C
Limb Girdle Muscular Dystrophy type 1F
Limb Girdle Muscular Dystrophy type 2A
Limb Girdle Muscular Dystrophy type 2B
Limb Girdle Muscular Dystrophy type 2C
Limb Girdle Muscular Dystrophy type 2D
Limb Girdle Muscular Dystrophy type 2E
Limb Girdle Muscular Dystrophy type 2F
Limb Girdle Muscular Dystrophy type 2I
Limb Girdle Muscular Dystrophy type 2K
Limb Girdle Muscular Dystrophy type 2N
Congenital Muscular Dystrophy type 1A
Congenital Muscular Dystrophy type 1C
Congenital Muscular Dystrophy with rigid spine
Congenital Muscular Dystrophy with integrin-alpha-7 deficiency
Congenital Muscular Dystrophy, Ullrich type
Bethlem myopathy
Facio Scapulo Humeral Muscular Dystrophy type 1A
Facio Scapulo Humeral Muscular Dystrophy type 2
Section 2: Congenital Myopathies
Congenital Multi-Mini-Core Myopathy
Congenital Central-Core Myopathy with Malignant Hyperthermia
Congenital Centronuclear Myopathy type 1
Congenital Hyaline Body Myopathy
Congenital Myotubular Myopathy
Congenital Nemaline Myopathy type 2
Congenital Fiber Type Disproportion type 1
Congenital Fiber Type Disproportion
Congenital Myofibrillar Myopathy type 1
Congenital Myofibrillar Myopathy type 6
Congenital Tubular Aggregate Myopathy
Hereditary Inclusion Body Myopathy type 2
Section 3: Ion Channel Disorders
Myotonic Dystrophy type 1, Steinert Disease
Congenital Myotonic Dystrophy
Myotonic Dystrophy type 2, Proximal Myotonic Myopathy
Congenital Myotonia, Thomsen Disease
Hyperkalemic Periodic Paralysis
Hypokalemic Periodic Paralysis type 1
Slow-channel Congenital Myasthenic Syndrome
Congenital Myasthenic Syndrome
Brody Disease
Section 4: Metabolic Myopathies
Glycogenosis type 2, Pompe Disease
Glycogenosis type 3, Cori-Forbes Disease
Glycogenosis type 5, McArdle Disease
Danon Disease
Kearns-Sayre Syndrome
Chronic Progressive External Ophthalmoplegia
MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like)
Leigh Syndrome due to COX Deficiency
Mitochondrial Encephalopathy with COX Deficiency
Coenzyme Q10 Deficiency
Multiple Symmetrical Lipomatosis
NARP (Neuropathy, Ataxia, Retinitis Pigmentosa)
SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis)
Systemic Primary Carnitine Deficiency
Neutral Lipid Storage Disease with Ichthyosis
Neutral Lipid Storage Disease with Myopathy
Multiple Acyl-CoA Dehydrogenase Deficiency
Carnitine-Palmitoyl-Transferase-II Deficiency
Niemann-Pick Disease type C1
Section 5: Neurogenic Disorders
Spinal Muscular Atrophy type 1, Werdnig-Hoffmann Disease
Spinal Muscular Atrophy type 2
Spinal Muscular Atrophy type 3, Kugelberg-Welander Disease
Spinal Bulbar Muscular Atrophy, Kennedy Disease
Charcot-Marie-Tooth Disease type 1A
Charcot-Marie-Tooth Disease type 1B
Charcot-Marie-Tooth Disease neuronal type
Charcot-Marie-Tooth Disease type 4A
Charcot-Marie-Tooth Disease with pyramidal features
Charcot-Marie-Tooth Disease type X1
Distal Spinal Muscular Atrophy
Hereditary Neuropathy with Pressure Palsies
Friedreich Ataxia
Spastic Ataxia, Charlevoix-Saguenay type
Ataxia-Telangiectasia, Louis-Bar Syndrome
Spastic Paraparesis type 4
Spastic Paraparesis type 7
Optic Atrophy Plus Syndrome
Amyotrophic Lateral Sclerosis type 1
Amyotrophic Lateral Sclerosis.