Eur J Med Genet 2021 Sep 17:104344. Epub 2021 Sep 17.
Department of Neurology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, 400014, China; China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing, 400014, China; Chongqing Key Laboratory of Pediatrics, Chongqing, 400014, China. Electronic address:
Introduction: Mitochondrial trifunctional protein (TFP) deficiency is an autosomal recessive disorder that causes a clinical spectrum of diseases ranging from severe infantile cardiomyopathy to mild chronic progressive neuromyopathy, however, parathyroid glands, hematologic system and kidney damage are not the common presentations of this disease.
Methods: We describe the clinical, biochemical and molecular features of the TFP deficiency patient at our institution. We also provide an extensive literature review of previous published cases with emphasis on the clinical/biochemical phenotype-genotype correlation of this disorder. Read More