Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewed
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation
Sarah Silverstein, Rotem Orbach, Safoora B. Syeda…·Carsten G. Bönnemann
The paper reports two patients with NEB-related congenital myopathy and describes how differential inclusion of NEB exons 143 and 144 affects disease manifestation and MRI patterns.
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