Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene

Saudi Journal of Gastroenterology

Volumn 18, Issue 4, 2012, Pages 285-289

  Alsaman, Abdulaziz ^a   Tomoum, Hoda ^a,b   Invernizzi, Federica ^c   Zeviani, Massimo ^c  

^a KING FAHAD MEDICAL CITY   (Saudi Arabia)

^b AIN SHAMS UNIVERSITY   (Egypt)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Case report; mitochondrial; mitochondrial depletion; MPV17

Indexed keywords

ARTICLE; BIOCHEMISTRY; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DEHYDRATION; ECZEMA; FAILURE TO THRIVE; GENE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HYPOGLYCEMIA; INFANT; LIVER FAILURE; MALE; MITOCHONDRIAL DNA DEPLETION SYNDROME; MOLECULAR PATHOLOGY; MOTOR DEVELOPMENT; MPV17 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PIGMENT DISORDER; VOMITING;

FATAL OUTCOME; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL PROTEINS; MUTATION;

EID: 84864456276     PISSN: 13193767     EISSN: 19984049     Source Type: Journal    
DOI: 10.4103/1319-3767.98439     Document Type: Article

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