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Article

Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia.

Muscle & nerve - 1 Dec 2006

Marques Vanessa D, Barreira Amilton A, Davis Mary B, Abou-Sleiman Patrick M, Silva Wilson A, Zago Marco A, Sobreira Claudia, Fazan Valéria, Marques Wilson

Abstract excerpt

The phenotype of 16 members of a family affected by a late-onset, dominant, progressive, motor and autonomic disorder is described. The VAPB (Pro56Ser) mutation was detected in Brazilian families with different phenotypes of motor neuron disorders. In this family, proximal and axial muscle weakne...

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Source

Identifiers

PMID: 16967488
DOI: 10.1002/mus.20657

Genes

VAPB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16967488-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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