LAUSR

Neurogenic arthrogryposis and the power of phenotyping

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1 Published in 2021 at "Neuromuscular Disorders"

DOI: 10.1016/j.nmd.2021.07.399

Abstract: In this article we review the commonest cause of neurogenic arthrogryposis, termed Spinal Muscular Atrophy Lower Extremity Dominant (SMALED), due to variants in DYNC1H1 and BICD2. We discuss the characteristic clinical and radiological phenotype of… read more here.

Keywords: arthrogryposis; arthrogryposis power; neurogenic arthrogryposis; power phenotyping ... See more keywords