An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages

  Mancini, Cecilia ^a   Orsi, Laura ^b   Guo, Yiran ^c   Li, Jiankang ^d   Chen, Yulan ^d   Wang, Fengxiang ^c   Tian, Lifeng ^c   Liu, Xuanzhu ^d   Zhang, Jianguo ^d   Jiang, Hui ^d,e   Nmezi, Bruce Shike ^f   Tatsuta, Takashi ^g   Giorgio, Elisa ^a   Di Gregorio, Eleonora ^b   Cavalieri, Simona ^b   Pozzi, Elisa ^a   Mortara, Paolo ^b,h   Caglio, Maria Marcella ^b,h   Balducci, Alessandro ^b,h   Pinessi, Lorenzo ^b,h   Langer, Thomas ^g,i   Padiath, Quasar S ^f   Hakonarson, Hakon ^c,j   Zhang, Xiuqing ^d,e   Brusco, Alfredo ^a,b   more..

^a UNIVERSITY OF TURIN   (Italy)

^b CITTÀ DELLA SALUTE E DELLA SCIENZA HOSPITAL   (Italy)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d BGI SHENZHEN   (China)

^e Shenzhen Key Laboratory of Genomics   (China)

^f UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^g UNIVERSITY OF COLOGNE   (Germany)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ MAX PLANCK INSTITUTE FOR BIOLOGY OF AGEING   (Germany)

^j UNIVERSITY OF PENNSYLVANIA   (United States)

more..

Author keywords

AFG3L2; Ataxia with oculomotor apraxia type 2; Autosomal recessive ataxia; Exome sequencing; Modifier genes; Myoclonus; SCAR1; Senataxin; SETX

Indexed keywords

ALPHA FETOPROTEIN; ADENOSINE TRIPHOSPHATE DEPENDENT PROTEINASE; AFG3L2 PROTEIN, HUMAN; RNA HELICASE; SETX PROTEIN, HUMAN;

ADULT; AFG3L2 GENE; ALPHA FETOPROTEIN BLOOD LEVEL; APRAXIA; ARTICLE; ATAXIA WITH OCULOAPRAXIA TYPE 2; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHILD; CONSANGUINITY; EARLY MENOPAUSE; ELECTROENCEPHALOGRAPHY; ELECTROPHYSIOLOGY; EVOKED SOMATOSENSORY RESPONSE; EXOME; EYE MOVEMENT DISORDER; FEMALE; FRIEDREICH ATAXIA; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HAPLOTYPE; HAPLOTYPE MAP; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERREFLEXIA; INHERITANCE; INTELLECTUAL IMPAIRMENT; INVOLUNTARY MOVEMENT; ITALIAN (CITIZEN); ITALY; KYPHOSCOLIOSIS; LIMITED MOBILITY; MITOCHONDRIAL MEMBRANE; MOTOR NEUROPATHY; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENICITY; PHENOTYPE; PREDICTION; PROTEIN FUNCTION; PTOSIS; RECESSIVE INHERITANCE; SCHOOL CHILD; SETX GENE; SKELETON MALFORMATION; TUNISIAN; ADOLESCENT; AMINO ACID SEQUENCE; ANIMAL; BODY POSTURE; CHEMISTRY; COMPLICATION; GENETICS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; SPINOCEREBELLAR DEGENERATION; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; ATP-DEPENDENT PROTEASES; CHILD; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; MYOCLONUS; PEDIGREE; POSTURE; RNA HELICASES; SPINOCEREBELLAR DEGENERATIONS; YOUNG ADULT;

EID: 84925298948     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0159-0     Document Type: Article

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