A Novel Variant of Autosomal Recessive Lower Motor Neuron Disease

Abstract

A genome-wide linkage analysis to map the underlying genetic defect was performed in a consanguineous African family with five patients affected with a novel variant of autosomal recessive lower motor neuron disease (LMND), in a study at Hopital Necker Enfants Malades and other centers, Paris, France.

Keywords

• novel variant of autosomal recessive lower motor neuron disease
• spinal muscular atrophy
• kugelberg-welander disease