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1. Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy. Issue 1 (September 2017)

5. Nonsyndromic Early‐Onset Cone‐Rod Dystrophy and Limb‐Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF. Issue 9 (14th July 2015)

6. Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β‐Cardiac Myosin (MYH7) Distal Myopathy. Issue 7 (21st May 2014)

8. Two intronic cis‐acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia. Issue 5 (15th February 2021)