FA2H-related disorders: A novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

Developmental Medicine and Child Neurology

Volumn 53, Issue 10, 2011, Pages 958-961

  Garone, Caterina ^a,d   Pippucci, Tommaso ^a   Cordelli, Duccio M ^a,b   Zuntini, Roberta ^a   Castegnaro, Giovanni ^a   Marconi, Caterina ^a   Graziano, Claudio ^a   Marchiani, Valentina ^a   Verrotti, Alberto ^c   Seri, Marco ^a   Franzoni, Emilio ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c UNIVERSITY OF CHIETI   (Italy)

^d UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FATTY ACID 2 HYDROXYLASE; FATTY ACID DERIVATIVE; PHENOBARBITAL; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CEREBELLUM ATROPHY; COGNITIVE DEFECT; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; DROWSINESS; ELECTROENCEPHALOGRAPHY; FAMILY; GENE MUTATION; GENOTYPE; GRAND MAL SEIZURE; HOMOZYGOTE; HUMAN; INTELLIGENCE QUOTIENT; LANGUAGE DISABILITY; LEUKOENCEPHALOPATHY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PARAPLEGIA; PHENOTYPE; PRIORITY JOURNAL; SIBLING; SPINAL CORD ATROPHY; TONIC SEIZURE;

ADOLESCENT; DNA MUTATIONAL ANALYSIS; FOLLOW-UP STUDIES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIXED FUNCTION OXYGENASES; MUTATION; NEURODEGENERATIVE DISEASES; YOUNG ADULT;

EID: 80052516570     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2011.03993.x     Document Type: Article

References (8)

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