Article
Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.
Muscle & nerve - 1 Jan 2019
Pinto Miguel M, Monges Soledad, Malfatti Edoardo, Lubieniecki Fabiana, Lornage Xavière, Alias Laura, Labasse Clémence, Madelaine Angéline, Fardeau Michel, Laporte Jocelyn, Tizzano Eduardo F, Romero Norma B
Abstract excerpt
INTRODUCTION: Mutations in the EXOSC3 gene are responsible for type 1 pontocerebellar hypoplasia, an autosomal recessive congenital disorder characterized by cerebellar atrophy, developmental delay, and anterior horn motor neuron degeneration. Muscle biopsies of these patients often show characteristics resembling classic spinal muscle atrophy, but to date, no distinct features have been identified. METHODS:...
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