Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Journal of Pediatrics

Volumn 171, Issue , 2016, Pages 313-316.e2

  Yoon, Grace ^a   Malam, Zeenat ^a   Paton, Tara ^a,b   Marshall, Christian R ^a,b   Hyatt, Ella ^a   Ivakine, Zhenya ^a   Scherer, Stephen W ^a,b   Lee, Kyong Soon ^a   Hawkins, Cynthia ^a   Cohn, Ronald D ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DYNAMIN 1 LIKE; DYNAMIN I; GENOMIC DNA; LACTIC ACID; MITOCHONDRIAL PROTEIN; MYOTONIC DYSTROPHY PROTEIN KINASE; POLG1 PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; UNCLASSIFIED DRUG; ACTIN BINDING PROTEIN; DNM1L PROTEIN, HUMAN; GUANOSINE TRIPHOSPHATASE; INF2 PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN; STOP CODON;

ARTICLE; BIRTH WEIGHT; BODY HEIGHT; BRAIN MITOCHONDRION; CASE REPORT; CESAREAN SECTION; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAM; FEMALE; FETUS DEATH; FETUS DISTRESS; FETUS HEART RATE; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; INFANT; INTUBATION; LACTATE BLOOD LEVEL; MALE; MITOCHONDRIAL FISSION DISORDER; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROPATHOLOGY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHYSICAL EXAMINATION; PREGNANCY COMPLICATION; PRIORITY JOURNAL; RESUSCITATION; TENDON REFLEX; TWIN PREGNANCY; DEFICIENCY; DNA MUTATIONAL ANALYSIS; EXOME; FAMILY HEALTH; FATALITY; FLUORESCENCE MICROSCOPY; GENETICS; MITOCHONDRIAL DYNAMICS; MUTATION; NEWBORN; PEDIGREE; STOP CODON;

CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXOME; FAMILY HEALTH; FATAL OUTCOME; FEMALE; GTP PHOSPHOHYDROLASES; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MICROFILAMENT PROTEINS; MICROSCOPY, FLUORESCENCE; MICROTUBULE-ASSOCIATED PROTEINS; MITOCHONDRIAL DISEASES; MITOCHONDRIAL DYNAMICS; MITOCHONDRIAL PROTEINS; MUTATION; PEDIGREE;

EID: 84957837287     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2015.12.060     Document Type: Article

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