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Article

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

Human mutation - 1 Mar 2014

Fiorillo Chiara, Moro Francesca, Yi Julie, Weil Sarah, Brisca Giacomo, Astrea Guja, Severino Mariasavina, Romano Alessandro, Battini Roberta, Rossi Andrea, Minetti Carlo, Bruno Claudio, Santorelli Filippo M, Vallee Richard

Abstract excerpt

DYNC1H1 encodes the heavy chain of cytoplasmic dynein 1, a motor protein complex implicated in retrograde axonal transport, neuronal migration, and other intracellular motility functions. Mutations in DYNC1H1 have been described in autosomal-dominant Charcot-Marie-Tooth type 2 and in families with distal spinal muscular atrophy (SMA) predominantly affecting the legs (SMA-LED). Recently, defects of cytoplasmic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24307404
DOI: 10.1002/humu.22491
PMCID: PMC4109683

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