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Article

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Neuromuscular disorders : NMD - 1 Nov 2016

Ravenscroft Gianina, Di Donato Nataliya, Hahn Gabriele, Davis Mark R, Craven Paul D, Poke Gemma, Neas Katherine R, Neuhann Teresa M, Dobyns William B, Laing Nigel G

Abstract excerpt

Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset...

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Source

Identifiers

PMID: 27751653
DOI: 10.1016/j.nmd.2016.09.009

Genes

BICD2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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