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Polyglucosan body myopathy type 1

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.

Systematic

Hereditary muscle diseases
Inclusion body myopathy 2
Nonaka myopathy
Polyglucosan body myopathy type 1
RBCK1

References:

1.

Schoser B et. al. () Unclassified polysaccharidosis of the heart and skeletal muscle in siblings.

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2.

Boisson B et. al. (2012) Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.

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3.

Nilsson J et. al. (2013) Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

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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.

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5.

de La Blanchardière A et. al. (1994) [Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family].

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Update: Aug. 14, 2020
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