minicores

Retrospectively, some findings like rigid spine in patient II-2, early ventilatory failure despite preserved ambulance in subjects II-2 and III-1, core-like lesions in patients II-2 and II-7, and fibers showing minicores or expressing αβ-Crystallin in subject II-7 are consistent with a myopathy caused by SEPN1 defects [26, 28 –30 ].

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