Antenatal multi-minicore disease with arthrogryposis multiplex congenital (Q104027): Difference between revisions

Infrequent congenital myopathy characterised by antenatal onset of arthrogryposis of distal extremities or limb girdle. Multi-minicore are defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganisation of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalised weakness with predominance in axial and proximal limb muscles.