Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review.

ABSTRACT: We reported a GNE myopathy with congenital thrombocytopenia on a young male patient. He presented with a 3-year history of lower distal extremity weakness initially affecting his legs. The weakness slowly progressed to lower proximal legs and upper arms last 6 months. Whole-exome sequencing revealed that the patient harbored two heterozygous gene mutations, including a novel insertion mutation c.*1037_*1038CACACACACACACACACACACA and c.C478T in exome 12 and 3 of the GNE gene (NM_001128227), respectively. The levels of serum sialic acid in this patient were considerably decreased. Muscle MRI imaging showed the anterior and medial parts of his quadriceps were heavily affected by this disease. Hematoxylin and eosin staining showed prominent rimmed vacuoles with a lack of inflammatory response

SUBMITTER: Xu Z 

PROVIDER: S-EPMC8978988 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature