Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles.

doi:10.1126/scitranslmed.aaz3267

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Article

Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles.

Science translational medicine - 10 Jun 2020

Lutz Anne-Kathrin, Pfaender Stefanie, Incearap Berra, Ioannidis Valentin, Ottonelli Ilaria, Föhr Karl J, Cammerer Judith, Zoller Marvin, Higelin Julia, Giona Federica, Stetter Maximilian, Stoecker Nicole, Alami Najwa Ouali, Schön Michael, Orth Michael, Liebau Stefan, Barbi Gotthold, Grabrucker Andreas M, Delorme Richard, Fauler Michael, Mayer Benjamin, Jesse Sarah, Roselli Francesco, Ludolph Albert C, Bourgeron Thomas, Verpelli Chiara, Demestre Maria, Boeckers Tobias M

Abstract excerpt

Heterozygous mutations of the gene encoding the postsynaptic protein SHANK3 are associated with syndromic forms of autism spectrum disorders (ASDs). One of the earliest clinical symptoms in SHANK3-associated ASD is neonatal skeletal muscle hypotonia. This symptom can be critical for the early diagnosis of affected children; however, the mechanism mediating hypotonia in ASD is not completely understood. Here, we...

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Identifiers

PMID: 32522805
DOI: 10.1126/scitranslmed.aaz3267

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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