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Article

Neurogenic arthrogryposis and the power of phenotyping.

Neuromuscular disorders : NMD - 1 Oct 2021

Rossor Alexander M, Reilly Mary M

Abstract excerpt

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 this disorder and how this has facilitated the identification of the genetic cause of SMALED2. We also review the similarities and differences between the human SMALED...

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Identifiers

PMID: 34736627
DOI: 10.1016/j.nmd.2021.07.399

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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