Polyglucosan body myopathy type 1 is an autosomal recessive disorder caused by mutations of the RBCK1 gene. Aside from polyglucosan body that are typical of this myopathy often an immunodeficiency is noticed.
Hereditary muscle diseases | ||||
Inclusion body myopathy 2 | ||||
Nonaka myopathy | ||||
Polyglucosan body myopathy type 1 | ||||
RBCK1 | ||||
1. |
Schoser B et. al. () Unclassified polysaccharidosis of the heart and skeletal muscle in siblings. |
2. |
Boisson B et. al. (2012) Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. |
3. |
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4. |
Wang K et. al. (2013) Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement. |
5. |
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