Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.

Abstract

Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by a trinucleotide CAG repeat expansion in the androgen receptor gene; it is clinically characterized by adult-onset, slowly progressive weakness and atrophy mainly affecting proximal limb and bulbar muscles. Charcot-Marie-Tooth disease type 1A is an autosomal dominant… (More)
DOI: 10.1016/j.nmd.2015.07.015

Cite this paper

@article{Sagnelli2015SpinalAB, title={Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.}, author={Anna Sagnelli and Vidmer Scaioli and Giuseppe Piscosquito and Ettore Salsano and Eleonora Dalla Bella and Cinzia Gellera and Davide Pareyson}, journal={Neuromuscular disorders : NMD}, year={2015}, volume={25 10}, pages={800-1} }