Sengers syndrome: Six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Haghighi, Alireza ^a,b   Haack, Tobias B ^c,d   Atiq, Mehnaz ^e   Mottaghi, Hassan ^f   Haghighi Kakhki, Hamidreza ^g   Bashir, Rani A ^h   Ahting, Uwe ^c,d   Feichtinger, René G ⁱ   Mayr, Johannes A ⁱ   Rötig, Agnès ^j   Lebre, Anne Sophie ^k   Klopstock, Thomas ^l   Dworschak, Andrea ^m   Pulido, Nathan ⁿ   Saeed, Mahmood A ^h   Saleh Gohari, Nasrollah ^o   Holzerova, Eliska ^c,d   Chinnery, Patrick F ^p   Taylor, Robert W ^p   Prokisch, Holger ^c,d  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e AGA KHAN UNIVERSITY   (Pakistan)

^f MASHHAD UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g ISLAMIC AZAD UNIVERSITY   (Iran)

^h KUWAIT OIL COMPANY   (Kuwait)

ⁱ PARACELSUS MEDICAL UNIVERSITY   (Austria)

^j IMAGINE INSTITUTE   (France)

^k HÔPITAL NECKER ENFANTS MALADES   (France)

^l LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^m UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

ⁿ Hospital Dr Gustavo Fricke   (Chile)

^o KERMAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^p NEWCASTLE UNIVERSITY   (United Kingdom)

more..

Author keywords

Acylglycerol Kinase; AGK; Genotype Phenotype Correlation; Mutation; Sengers syndrome

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; MITOCHONDRIAL DNA; AGK PROTEIN, HUMAN; PHOSPHOTRANSFERASE;

ADOLESCENT; ADULT; AGK GENE; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARDIOMEGALY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEX I DEFICIENCY; CONGENITAL CATARACT; DISEASE SEVERITY; DNA CONTENT; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; EOSINOPHILIA; FAMILY; FEMALE; GENE; GENE DOSAGE; GENOTYPE PHENOTYPE CORRELATION; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE BIOPSY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INFANT; LACTIC ACIDOSIS; LOSS OF FUNCTION MUTATION; MALE; MENINGOCELE; MITOCHONDRIAL RESPIRATION; MITRAL VALVE REGURGITATION; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOPATHY; NEWBORN; NYSTAGMUS; PHENOTYPIC VARIATION; PREDICTION; SCHOOL CHILD; SENGERS SYNDROME; SEQUENCE ANALYSIS; SPLICING DEFECT; T WAVE INVERSION; TACHYPNEA; THORAX RADIOGRAPHY; TRICUSPID VALVE REGURGITATION; CARDIOMYOPATHY; CATARACT; GENETICS; MUTATION; PHENOTYPE;

CARDIOMYOPATHIES; CATARACT; HUMANS; MUTATION; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 84908020091     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0119-3     Document Type: Article

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