Panel 8.2: Metabolic myopathies

Includes:

Congenital myasthenic syndromes, lipid storage myopathy, glycogen storage disease, other.

Congenital myasthenic syndromes are a heterogeneous group of diseases of hereditary non-autoimmune neuromuscular transmission. There is involvement of neuromuscular transmission by mutations in the genes encoding proteins of pre and postsynaptic membranes.

Lipids are one of the major muscle fuel especially during rest, during periods of fasting and during exercises of low intensity and long duration. Of cytoplasmic deposits pass into the mitochondria where they are finally degraded. The absence of carnitine for the passage of essential fatty acids Long (palmitic and oleic) or any of the enzymes involved in the process chain, leads to called lipid myopathies.

Muscle glycogen storage disease are due to enzymatic process failures or storage Cellular glycogen degradation. There are more than 15 glucogenosis and virtually all of them less type I (deficiency of glucose 6-phosphatase) and Type VI (liver phosphorylase deficiency) have muscular involvement being the most characteristic type II or Pompe disease and type V or McArdle disease.

NMG8_2: Metabolic myopathies

Included genes:

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Panel 8.2: Metabolic myopathies