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2. A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Issue 2 (8th January 2015)

3. A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Issue 2 (8th January 2015)

5. Clinical and genetic characterization of AP4B1‐associated SPG47. Issue 2 (28th November 2017)

9. Revised upper limb module for spinal muscular atrophy: 12 month changes. Issue 4 (7th February 2019)