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  Malignant hyperthermia
  General features
  Specific causes

Myoglobinuria: Acquired causes
  Muscle activity
  Idiopathic recurrent
  Ischemia (Hypoxia)
    Compartment syndromes
  Neuroleptic malignant syndrome
  Other: Occasional myoglobinuria
  Polymyositis: Anti-MAS syndrome
  Serotonin syndrome
  Snake venoms
    Thyroid: Hyper or Hypo
Myoglobinuria: Familial causes
  Acyl-CoA Dehydrogenase (VLCAD)
  Carnitine Palmitoyltransferase II (CPT2)
  Central core
    Recurrent: LPIN1; 2p25
  Glycogen metabolism disorders
  Hypokalemic periodic paralysis
  King-Denborough syndrome
  Malignant hyperthermia (MHS) loci
    MHS1: Ryanodine Receptor; 19q13
    MHS2: Na+ channel (SCNA4); 17q11
    MHS3: Ca++ channel (CACNL2A); 7q21
    MHS4: 3q13
    MHS5: Ca++ channel (CACNA1S); 1q32
    MHS6: 5p
    CPT2: 1p32
  Marinesco-Sjögren: SIL1
  Muscular dystrophies
  Myoadenylate deaminase deficiency
  Native American Myopathy: Stac3; 12q13
  Other familial
  Sickle cell anemia

MYOGLOBINURIA: General features 12

MYOGLOBINURIA: Specific causes

Malignant Hyperthermia Glycogen metabolic disorders Fatty acid oxidation & Lipid metabolism Myoglobinuria: Mitochondrial disorders Familial: Other disorders with occasional myoglobinuria Drugs & Toxins Systemic
Hypokalemic myopathy & Rhabdomyolysis Muscle Trauma Ischemia (Hypoxia) Infections Immune myopathy

Muscle: Exercise related genetics & pathology 31

Malignant Hyperthermia Syndromes (MHS) 1

General features

Hypokalemic periodic paralysis
MHS loci
  MHS1: Ryanodine Receptor; 19q13
  MHS2: Na+ channel (SCNA4); 17q11
  MHS3: Ca++ channel (CACNL2A); 7q21
  MHS4: 3q13
  MHS5: Ca++ channel (CACNA1S); 1q32
  MHS6: 5p
  CPT2: 1p32
King-Denborough: RYR1; 19q13
Native American Myopathy: Stac3; 12q13
Occasional MH

King-Denborough Syndrome

  Ryanodine Receptor ; Chromosome 19q13.1; Dominant
  ? Other; Autosomal Dominant, or Sporadic

From: A Connolly MD

Ethanol-Induced Myopathies

Monensin-Induced Rhabdomyolysis 11

Coenzyme Q10 Deficiency 23

Familial Recurrent Rhabdomyolysis (Myoglobinuria) in Childhood 24

  Lipin-1 (LPIN1) ; Chromosome 2p25.1; Recessive

Native American Myopathy 25

  SH3 and cysteine-rich domain-containing protein 3 (Stac3) ; Chromosome 12q13.3; Recessive

Encephalocardiomyopathy with Cardiac Arrythmias, Rhabdomyolysis & Neurodegeneration (MECRCN) 34

  Transport and Golgi organization protein 2 homolog (TANGO2; C22orf25) ; Chromosome 22q11.21; Recessive

Encephalomyopathy, early onset, with Rhabdomyolysis (Mild) & Neurodegeneration (PERRB)

  Transport (Trafficking) protein particle complex 2-like (TRAPPC2L) ; Chromosome 16q24.3; Recessive

Neuroleptic Malignant Syndrome (NMS)

Serotonin syndrome

Haff disease

Mushroom intoxication


e-Amino Caproic Acid (Amicar)

Lipid lowering agent myopathies 4

General syndromes

Cocaine 3


Proton pump inhibitors (PPI) 19

Exertional Heat Stroke

Idiopathic Recurrent Myoglobinuria

Compartment Syndromes

Definition & Features General associations Precipitating factors & Localization Laboratory Treatment
Compartment syndrome: Deltoid muscle (MRI)


Acetylcholine receptor (AChR) binding
Phospholipase A2 proteins

Myotoxic peptides Myotoxic phospholipase A2 proteins: 2 groups Acetylcholine receptor (AChR) binding compounds: Toxins & Venom polypeptides
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