A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation

Heterozygous variants in BICD2 cause autosomal dominant spinal muscular atrophy with lower extremity predominance. These variants are also identified in individuals with severe forms of congenital muscle atrophy representing arthrogryposis multiplex.

Source: Brain and Development - August 31, 2020 Category: Neurology Authors: Yuki Ueda, Takashi Suganuma, Yoko Narumi-Kishimoto, Tadashi Kaname, Tomonobu Sato Tags: Case Report Source Type: research