Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
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Title
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
Authors
Keywords
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Journal
BRAIN
Volume 137, Issue 12, Pages 3160-3170
Publisher
Oxford University Press (OUP)
Online
2014-09-27
DOI
10.1093/brain/awu272
References
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Related references
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- PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION
- (2010) K. G. Claeys et al. NEUROLOGY
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- (2010) Norma Beatriz Romero NEUROMUSCULAR DISORDERS
- Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation
- (2010) Johann Böhm et al. Orphanet Journal of Rare Diseases
- Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy
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- (2008) Christian Löw et al. BIOPHYSICAL JOURNAL
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