Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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. |
Nilsson J et. al. (2013) Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
|
| 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. |
de La Blanchardière A et. al. (1994) [Severe cardiomyopathy revealing amylopectinosis. Two cases in adolescents from the same family].
|
 |
Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |