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Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy.
Leeuwen, Lisette; Lubout, Charlotte M A; Nijenhuis, Hessel P; Meiners, Linda C; Vos, Yvonne J; Herkert, Johanna C.
Affiliation
  • Leeuwen L; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Lubout CMA; Department of Pediatrics, Section of Metabolic Diseases, University of Groningen, Groningen, The Netherlands.
  • Nijenhuis HP; Department of Pediatrics, Center for Congenital Heart Diseases, University of Groningen, Groningen, The Netherlands.
  • Meiners LC; Department of Radiology, University of Groningen, Groningen, The Netherlands.
  • Vos YJ; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Herkert JC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Clin Genet ; 102(4): 350-351, 2022 10.
Article in En | MEDLINE | ID: mdl-35791803
ABSTRACT
We report a 19-month-old patient with cardiomyopathy as the first presenting feature of primary COQ10 deficiency-6. This case expands the phenotypic spectrum of this disorder. Furthermore, it shows that genetic testing for primary COQ10 deficiency should be considered in patients with pediatric-onset cardiomyopathy as it can guide treatment options.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Cardiomyopathies Type of study: Diagnostic_studies Limits: Humans / Infant Language: En Journal: Clin Genet Year: 2022 Document type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Cardiomyopathies Type of study: Diagnostic_studies Limits: Humans / Infant Language: En Journal: Clin Genet Year: 2022 Document type: Article Affiliation country: Netherlands