Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study.

Collagen VI-related myopathies are a group of disorders that cause muscle weakness and joint contractures with significant variability in disease severity among patients. Here we report the clinical and genetic characteristics of 13 Chinese patients. Detailed histological, radiological and muscle transcriptomic evaluations were also conducted for selected representative patients.

A fatal case of -associated primary coenzyme Q deficiency.

Background: Primary coenzyme Q (CoQ) deficiencies are clinically and genetically heterogeneous group of disorders associated with defects of genes involved in the CoQ biosynthesis pathway. -associated CoQ deficiency is very rare and only two cases have been reported.

Methods And Results: We report a patient with encephalo-myo-nephro-cardiopathy, persistent lactic acidosis, and basal ganglia lesions resulting in early infantile death.