multiminicore

As in our family, defects in SEPN1 have been associated with a variable clinico-histopathological picture that includes rigid spine muscular dystrophy (RSMD-1), multiminicore disease, desmin-related myopathy with Mallory body-like inclusions (MR-DRM), and also non-specific myopathological features.

2016 January 21, “Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing”, in PLOS ONE, →DOI