Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita

Journal of Human Genetics

Volumn 60, Issue 9, 2015, Pages 509-513

  Fukumura, Shinobu ^a   Ohba, Chihiro ^b   Watanabe, Toshihide ^c   Minagawa, Kimio ^c   Shimura, Masaru ^d   Murayama, Kei ^d   Ohtake, Akira ^e   Saitsu, Hirotomo ^b   Matsumoto, Naomichi ^b   Tsutsumi, Hiroyuki ^a  

^a SAPPORO MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c HOKKAIDO MEDICAL CENTER   (Japan)

^d CHIBA CHILDREN'S HOSPITAL   (Japan)

^e SAITAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYBUTYRIC ACID; CLOBAZAM; CLONAZEPAM; CORTICOTROPIN; GENOMIC DNA; LACTIC ACID; PYRIDOXINE; PYRUVIC ACID; VALPROIC ACID; ZONISAMIDE; ELONGATION FACTOR G; GFM2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

ARTHROGRYPOSIS; ARTICLE; BRADYCARDIA; BRAIN ATROPHY; BRAIN STEM; CASE REPORT; CEREBELLUM; CEREBELLUM ATROPHY; CEREBRAL PALSY; CEREBROSPINAL FLUID LEVEL; CHILD; DEHYDRATION; DOPPLER ECHOGRAPHY; ELECTROCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; ENTERIC FEEDING; FEMALE; GASTROENTERITIS; GENE; GENE MUTATION; GFM2 GENE; HUMAN; HYPOPLASIA; HYPSARRHYTHMIA; IMMOBILITY; INFANTILE SPASM; JOINT CONTRACTURE; LEIGH DISEASE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OPTIC NERVE ATROPHY; OXIDATIVE PHOSPHORYLATION; RESPIRATORY TRACT INFECTION; SINUS BRADYCARDIA; TONIC SEIZURE; TRACHEOTOMY; VOMITING; COMPLICATION; FATALITY; GENETICS; HETEROZYGOTE; INFANT; NUCLEOTIDE SEQUENCE; PEDIGREE; SIBLING;

ARTHROGRYPOSIS; BASE SEQUENCE; CHILD; FATAL OUTCOME; FEMALE; HETEROZYGOTE; HUMANS; INFANT; LEIGH DISEASE; MITOCHONDRIAL PROTEINS; PEDIGREE; PEPTIDE ELONGATION FACTOR G; SIBLINGS;

EID: 84942778332     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.57     Document Type: Article

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