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

Panel 8.2: Metabolic myopathies-betaoxidation

Included genes:

SCN4A CHRNA1 LAMP2 HADHB
CLCN1 CHRND CPT2 PNPLA2
DOK7 CHRNE SLC22A5 GYS1
AGRN CHRNB1 ACADS GAA
GFPT1 MUSK ACADVL LAMP2
CHAT RAPSN HACD1 AGL
COLQ DPAGT1 HADHA GBE1
PYGM PGM1 PGK1 MICU1
LDHA GYG1 HSPG2 GNE
PFKM VMA21 TAZ ALDOA
PHKB CACNA1S SLC16A2 AMPD1
PHKA1 RYR1 LTC4S ATP2A1
PGAM2 SLC16A1 MYH7

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pdf filePanel 8.2: Metabolic myopathies