Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

ABSTRACT: Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mortality, to milder disorders that are not life-limiting. Over the past decade, more than 20 new congenital myopathy genes have been identified. Most encode proteins involved in muscle contraction; however, mutations in ion channel-encoding genes are increasingly being recognized as a cause of this group of disorders. SCN4A encodes the α-subunit of the skeletal muscle voltage-gated sodium channel (Nav1.4). This channel is essential for the generation and propagation of the muscle action potential

SUBMITTER: Zaharieva IT 

PROVIDER: S-EPMC4766374 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature