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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 weakness and atrophy, associated with abdominal protrusion, defined the motor phenotype. Death occurred in 10-15 years due to...

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Source

Identifiers

PMID: 16967488
DOI: 10.1002/mus.20657

Genes

VAPB

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