Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

ConclusionsWe report an autosomal dominant adult-onset distal hereditary motor neuronopathy with incomplete penetrance in women as a new phenotype related to a truncating variant in theBAG3 gene. Our findings expand the phenotypic spectrum ofBAG3-related disorders, which previously included dilated cardiomyopathy, myofibrillar myopathy and adult-onset Charcot-Marie-Tooth type 2 neuropathy. Variants inBAG3 should be considered in the differential diagnosis of distal hereditary motor neuronopathies.
Source: Journal of Neurology - Category: Neurology Source Type: research