Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies.

ABSTRACT: Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord. Initially, the disease was considered purely as an autosomal recessive condition caused by loss-of-function SMN1 mutations on 5q13. Recent developments in next generation sequencing technologies, however, have unveiled a growing number of clinical conditions designated as non-5q forms of spinal muscular atrophy. At present, 16 different genes and one unresolved locus are associated with proximal non-5q forms, having high phenotypic variability and diverse inheritance patterns. This review provides an overview of the current knowledge regarding the phenotypes, causative genes, and disease mechanisms associated with prox

SUBMITTER: Peeters K 

PROVIDER: S-EPMC4208460 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature