Clinical spectrum of BICD2 mutations
European Journal of Neurology2020Vol. 27(7), pp. 1327–1335
Citations Over TimeTop 24% of 2020 papers
Marina Frasquet, Ángela Flox Camacho, Roger Vílchez, Herminia Argente‐Escrig, Elvira Millet, Juan F. Vázquez‐Costa, Raquel Silla, Ana Sánchez‐Monteagudo, Juan J. Vílchez, Carmen Espinós, Vincenzo Lupo, Teresa Sevilla
Abstract
We report three new pathogenic mutations in the BICD2 gene. Muscle MRI confirms the existence of a selective pattern of thigh and leg muscle involvement in SMALED2A, providing additional information regarding pelvic and foot muscles. Moreover, our results raise the possibility of sensory involvement in the disease.
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