Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus
Author:
Publisher
Oxford University Press (OUP)
Subject
Clinical Neurology
Link
http://academic.oup.com/brain/article-pdf/138/2/246/11143949/awu368.pdf
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3. T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase;Al-Qusairi;Proc Natl Acad Sci U S A,2009
4. Genotype-phenotype correlations in recessive RYR1-related myopathies;Amburgey;Orphanet J Rare Dis,2013
5. Prevalence of congenital myopathies in a representative pediatric united states population;Amburgey;Ann Neurol,2011
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