Homozygous deletion, c. 1114-1116del, in exon 8 of the gene causes congenital muscular dystrophy in Chinese family: A case report.

Background: Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Mutations in the gene (encoding CDPLribitol pyrophosphorylase A) are recognized as causative factors of dystroglycanopathies, a subtype of CMD with defects in glycosylation.

Case Summary: The present study examined a Chinese family, whose proband presented mainly with muscle weakness in both lower limbs but without brain and eye symptoms.

Gastrocnemius-derived BDNF promotes motor function recovery in spinal cord transected rats.

This study evaluated the role of gastrocnemius-derived brain-derived neurotrophic factor (BDNF) and possible mechanism in motor improvement in T10 spinal cord transection (SCT) rats. There was complete paralysis in hindlimbs immediately after SCT, followed by partial functional restoration with time going. The level of BDNF but not its mRNA gradually increased in caudal stump after SCT, whereas a significant increase in both BDNF and its mRNA was simultaneously seen in gastrocnemius.