Molecular and Genetic Medicine

Pediatric Consultant and Consultant of Medical Genetics, King Faisal General Hospital, Al-Haasa, Saudi Arabia

Publications

• Case Report   
  Unusual Presentation of Mitochondrial Depletion Syndrome Related to FBXL4: A Case Report
  Author(s): Al-Buali Majed J*, Alhamad Anwar R, Al-Obaid Jaafer J, Al-Motawa Mossa N, Al-Yaseen Mujtaba A, Al-Haddad Mousa Ali and Al-Ghadeer Ahmed Y
  
  Background: Mitochondrial depletion syndrome (MDS) is phenotypically heterogeneous and may affect either single or multiple organs including muscles, liver, brain, and kidneys. FBXL4-related mitochondrial depletion syndrome of encephalomyopathic type is a severe condition that begins at an early age. It is primarily linked to brain dysfunction combined with muscle weakness. Case presentation: In the present case, a homozygous loss of function variant of FBXL4 (MIM 605654) was identified by whole exome sequencing (WES) in a three-year old Saudi girl who exhibited biochemical, and cerebral magnetic resonance imaging features consistent with mitochondrial DNA depletion syndrome 13, but had different presentations which has not been reported before. Conclusion: MDTP13 (encephalomyopathic type) is caused by biallelic pa.. Read More»
  DOI: 10.37421/jmgm.2020.14.456

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