Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Johanna Nilsson; Benedikt Schoser; Pascal Laforet; Ognian Kalev; Christopher Lindberg; Norma B. Romero; Marcela Dávila Lõpez; Hasan O. Akman; Karim Wahbi; Stephan Iglseder; Christian Eggers; Andrew G. Engel; Salvatore Dimauro; Anders Oldfors

doi:10.1002/ana.23963

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Johanna Nilsson, Benedikt Schoser, Pascal Laforet, Ognian Kalev, Christopher Lindberg, Norma B. Romero, Marcela Dávila Lõpez, Hasan O. Akman, Karim Wahbi, Stephan Iglseder, Christian Eggers, Andrew G. Engel, Salvatore Dimauro, Anders Oldfors

Neurology

Research output: Contribution to journal › Article › peer-review

75 Scopus citations

Abstract

Glycogen storage diseases are important causes of myopathy and cardiomyopathy. We describe 10 patients from 8 families with childhood or juvenile onset of myopathy, 8 of whom also had rapidly progressive cardiomyopathy, requiring heart transplant in 4. The patients were homozygous or compound heterozygous for missense or truncating mutations in RBCK1, which encodes for a ubiquitin ligase, and had extensive polyglucosan accumulation in skeletal muscle and in the heart in cases of cardiomyopathy. We conclude that RBCK1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy. Ann Neurol 2013;74:914-919

Original language	English (US)
Pages (from-to)	914-919
Number of pages	6
Journal	Annals of neurology
Volume	74
Issue number	6
DOIs	https://doi.org/10.1002/ana.23963
State	Published - Dec 2013

ASJC Scopus subject areas

Neurology
Clinical Neurology

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title = "Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1",

abstract = "Glycogen storage diseases are important causes of myopathy and cardiomyopathy. We describe 10 patients from 8 families with childhood or juvenile onset of myopathy, 8 of whom also had rapidly progressive cardiomyopathy, requiring heart transplant in 4. The patients were homozygous or compound heterozygous for missense or truncating mutations in RBCK1, which encodes for a ubiquitin ligase, and had extensive polyglucosan accumulation in skeletal muscle and in the heart in cases of cardiomyopathy. We conclude that RBCK1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy. Ann Neurol 2013;74:914-919",

author = "Johanna Nilsson and Benedikt Schoser and Pascal Laforet and Ognian Kalev and Christopher Lindberg and Romero, {Norma B.} and {D{\'a}vila L{\~o}pez}, Marcela and Akman, {Hasan O.} and Karim Wahbi and Stephan Iglseder and Christian Eggers and Engel, {Andrew G.} and Salvatore Dimauro and Anders Oldfors",

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T1 - Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

AU - Nilsson, Johanna

AU - Schoser, Benedikt

AU - Laforet, Pascal

AU - Kalev, Ognian

AU - Lindberg, Christopher

AU - Romero, Norma B.

AU - Dávila Lõpez, Marcela

AU - Akman, Hasan O.

AU - Wahbi, Karim

AU - Iglseder, Stephan

AU - Eggers, Christian

AU - Engel, Andrew G.

AU - Dimauro, Salvatore

AU - Oldfors, Anders

PY - 2013/12

Y1 - 2013/12

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AB - Glycogen storage diseases are important causes of myopathy and cardiomyopathy. We describe 10 patients from 8 families with childhood or juvenile onset of myopathy, 8 of whom also had rapidly progressive cardiomyopathy, requiring heart transplant in 4. The patients were homozygous or compound heterozygous for missense or truncating mutations in RBCK1, which encodes for a ubiquitin ligase, and had extensive polyglucosan accumulation in skeletal muscle and in the heart in cases of cardiomyopathy. We conclude that RBCK1 deficiency is a frequent cause of polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy. Ann Neurol 2013;74:914-919

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Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Abstract

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