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Kathy North’s table

Kathy North (Australia) gave during her presention a very comprehensive update of the congenital myopathies :
Disease
Mode of transmission
Gene/Protein
Nemaline myopathy
AD, AR
AD, AR
AD
AR
AR
AR
Slow α-tropomyosin
Skeletal α-actin
β-tropomyosin
Nebulin
Troponin T1
Cofilin
Central core disease
AD, AR
Ryanodin receptor
Myotubular myopathy
X-linked
Myotubularin
Centronuclear myopathy
AD
AR
Dynamin 2
Amphiphysin 2
Multiminicore disease
AD, AR
AR
Ryanodin receptor
Selenoprotein N
Myosin storage myopathy/hyaline body myopathy
AD
Slow myosin heavy chain
Sarcotubular myopathy
AR
TRIM32
Congenital fibre type disproportion myopathy
AD
AD
AD
AR
Skeletal α-actin
Slow α-tropomyosin
β-tropomyosin
Selenoprotein N