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SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling

20 Feb 2018

Abstract excerpt

Centronuclear myopathies (CNM) are a subtype of congenital myopathies (CM) characterized by skeletal muscle weakness and an increase in the number of central myonuclei. We have previously identified three CNM probands, two with associated dilated cardiomyopathy, carrying striated preferentially expressed gene (SPEG) mutations. Currently, the role of SPEG in skeletal muscle function is unclear as constitutive...

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PMID: 29474540
DOI: 10.1093/hmg/ddy068

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