Congenital myopathies 2

The kyphoscoliosis peptidase (KY) gene encodes a muscle-specific a Z-disc-associated protein which is specifically expressed in skeletal-, cardiac muscle and CNS. The mutation in the Ky-gene has first been identified in a mouse mutant with progressive muscular dystrophy and thoracolumbar kyphoscoliosis. Since then, only a few cases with myofibrillar myopathy, congenital myopathy and hereditary spastic paraplegia caused by mutation in KY were described. Here, we present two brothers with congenital myopathy with early contractures carrying a novel homozygous missense (ENST00000423778.2) p.Cys243Arg (c.727T>C) mutation in the KY gene.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: H. Durmus, A. Cakar, Y. Parman Source Type: research