Τίτλος:
Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the aforementioned TK2 gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of TK2 mutations associated with MDDS. © Gaetano Conte Academy - Mediterranean Society of Myology
Συγγραφείς:
Papadimas, G.K.
Vargiami, E.
Dragoumi, P.
van Coster, R.
Smet, J.
Seneca, S.
Papadopoulos, C.
Kararizou, E.
Zafeiriou, D.
Περιοδικό:
Acta Myologica
Εκδότης:
Pacini Editore S.p.A.
Λέξεις-κλειδιά:
creatine kinase; thymidine kinase; thymidine kinase 2, Article; case report; child; clinical article; clinical examination; cranial nerve; creatine kinase blood level; developmental delay; gene; gene mutation; histochemistry; homozygote; hospital admission; human; human tissue; hypertransaminasemia; male; mitochondrial DNA depletion syndrome; motor coordination; muscle biopsy; muscle strength; muscle tone; muscle weakness; pediatric ward; phenotype; preschool child; Sanger sequencing; stair climbing; tendon reflex; TK2 gene; walking difficulty; complication; disorders of mitochondrial functions; genetics; infant; muscle disease; mutation; pathology, Child, Preschool; Humans; Infant; Male; Mitochondrial Diseases; Muscular Diseases; Mutation; Thymidine Kinase
DOI:
10.36185/2532-1900-012
