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Article

Duplication in the Microtubule-Actin Cross-linking Factor 1 gene causes a novel neuromuscular condition

5 Jun 2014

Abstract excerpt

Spectrins and plakins are important communicators linking cytoskeletal components to each other and to cellular junctions. Microtubule-actin cross-linking factor 1 (MACF1) belongs to the spectraplakin family and is involved in control of microtubule dynamics. Complete knock out of MACF1 in mice is associated with developmental retardation and embryonic lethality. Here we present a family with a novel...

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PMID: 24899269
DOI: 10.1038/srep05180

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