Ontology highlight
ABSTRACT:
SUBMITTER: Vanoli F
PROVIDER: S-EPMC4568910 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Vanoli Fiammetta F Rinchetti Paola P Porro Francesca F Parente Valeria V Corti Stefania S
Journal of cellular and molecular medicine 20150620 9
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration. It is a rare and fatal disease with an early onset in infancy in the majority of the cases. The main clinical features are muscular atrophy and diaphragmatic palsy, which requires prompt and permanent supportive ventilation. The human disease is recapitulated in th ...[more]