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Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.

Acta neuropathologica - 1 Sept 2016

Straussberg Rachel, Schottmann Gudrun, Sadeh Menachem, Gill Esther, Seifert Franziska, Halevy Ayelet, Qassem Kaiyal, Rendu John, van der Ven Peter F M, Stenzel Werner, Schuelke Markus

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PMID: 27484770
DOI: 10.1007/s00401-016-1602-9

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Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.PMID 27484770Read ↗

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Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.Semantic proximity Read ↗

The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein.Semantic proximity Read ↗

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