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3. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Issue 8 (12th June 2013)

5. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Issue 4 (3rd March 2019)

8. Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population. Issue 4 (19th June 2018)