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skeletal muscle

Autism-Associated SHANK3 Mutations Impair Maturation of Neuromuscular Junctions and Striated Muscles

[Science Translational Medicine] Investigators used a combination of patient-derived human iPSCs, Shank3Δ11(−/−) mice, and Phelan-McDermid syndrome muscle biopsies from patients of different ages to analyze the role of SHANK3 on motor unit development.

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