Browsing by Subject "Whole body MRI"
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Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy (Elsevier, 2017)Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance ...