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. In this family, a homozygous deletion, c. 1114-1116del (p.V372del), was identified in exon 8 of in the proband, while a heterozygous deletion was identified in the proband's father and mother, who lacked symptoms. A mild dystroglycanopathy of CMD was diagnosed.

Conclusion: The findings of this study expanded the clinical and mutational spectrum of patients with CMD associated with mutations.