Two Desmin Gene Mutations Associated with Myofibrillar Myopathies in Polish Families
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Title
Two Desmin Gene Mutations Associated with Myofibrillar Myopathies in Polish Families
Authors
Keywords
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Journal
PLoS One
Volume 9, Issue 12, Pages e115470
Publisher
Public Library of Science (PLoS)
Online
2014-12-27
DOI
10.1371/journal.pone.0115470
References
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Note: Only part of the references are listed.- Guidelines for investigating causality of sequence variants in human disease
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- (2012) Christoph S. Clemen et al. ACTA NEUROPATHOLOGICA
- A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy
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- (2011) Melis Arslan et al. COMPUTER METHODS IN BIOMECHANICS AND BIOMEDICAL ENGINEERING
- Desmin-related myopathy
- (2010) KY van Spaendonck-Zwarts et al. CLINICAL GENETICS
- Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks
- (2010) Ellen Otten et al. HEART RHYTHM
- Myofibrillar Myopathies: A Clinical and Myopathological Guide
- (2009) Rolf Schröder et al. BRAIN PATHOLOGY
- Intermediate filaments: primary determinants of cell architecture and plasticity
- (2009) Harald Herrmann et al. JOURNAL OF CLINICAL INVESTIGATION
- Mutation in BAG3 causes severe dominant childhood muscular dystrophy
- (2008) Duygu Selcen et al. ANNALS OF NEUROLOGY
- In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
- (2008) Alexey Shatunov et al. EUROPEAN JOURNAL OF HUMAN GENETICS
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