Neurophysiological findings of the late-onset, dominant, proximal spinal muscular atrophies with dysautonomia because of the VAPB PRO56SER mutation.

Abstract excerpt

The vesicle-associated membrane protein/synaptobrevin-associated membrane protein B (VAPB) Pro56Ser mutation has been identified in Brazilian families showing various motor neuron syndromes. However, the neurophysiological characteristics of these patients have not been detailed, and some questions still need to be solved, such as the possible presence of myotonia and the origin of the abdominal protrusion seen...

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