Title: | Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations |
Journal : | Muscle & Nerve, 54, 3 |
Authors: | Rudnik Schoneborn S, Author ; Deden F ; Eggermann K ; Eggermann T ; Wieczorek D ; Sellhaus B ; Yamoah A ; Goswami A ; Claeys KG ; Weis J ; Zerres K |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 496 |
Languages: | English |
Keywords : | anatomopathology ; autopsy ; autosomal dominant proximal spinal muscular atrophy ; axonal transport ; BICD2 gene ; case studies ; clinical presentation ; family ; Golgi apparatus ; lower limbs ; muscle contractures ; neurogenic nervous involvement ; point mutations ; scapular girdle |
Keywords: | BICD2 gene;arthrogryposis multiplex congenital;axonopathy;dominant congenital spinal muscular atrophy;lower extremity predominance;spinal muscular atrophy; |
Pubmed / DOI : | DOI : 10.1002/mus.25114 / Pubmed : 26998597 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/26998597 |