Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth

Prenatal Diagnosis

Volumn 22, Issue 1, 2002, Pages 34-37

  Arnon, Shmuel ^a,c   Aviram, Rami ^a   Dolfin, Tzipora ^b   Regev, Rivka ^a   Litmanovits, Ita ^b   Tepper, Ronnie ^a   Elpeleg, Orly N ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c MEIR MEDICAL CENTER   (Israel)

Author keywords

Fetal skin edema; Mitochondrial depletion; Prenatal diagnosis

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DNA REPLICATION; FEMALE; FETUS HYDROPS; FETUS MOVEMENT; HUMAN; IMMUNOCYTOCHEMISTRY; LACTIC ACIDEMIA; MULTIPLE ORGAN FAILURE; MUSCLE MITOCHONDRION; NEWBORN; NEWBORN PERIOD; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN FAMILY; RESPIRATORY CHAIN; SKIN EDEMA;

CONSANGUINITY; DNA; DNA, MITOCHONDRIAL; EDEMA; FEMALE; FETAL DISEASES; FETAL MOVEMENT; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; LACTIC ACID; MITOCHONDRIA, MUSCLE; MULTIPLE ORGAN FAILURE; PREGNANCY; SKIN; ULTRASONOGRAPHY, PRENATAL;

HYDROPS;

EID: 0036167580     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.232     Document Type: Article

References (8)

1. Mitochondria and skin disease
2. Mitochondrial DNA depletion is expressed in amniotic fluid cell cultures
3. First-trimester prenatal diagnosis of a cystic lesion associated with fetal skin edema
4. Mitochondrial respiratory chain disorders II: Neurodegenerative disorders and nuclear gene defects
5. Pathological significance of first trimester nuchal oedema
6. mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
7. Biochemical and molecular investigations in respiratory chain deficiencies
8. Clinical manifestations of mitochondrial DNA depletion