Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia

Journal of Neurology

Volumn 261, Issue 12, 2014, Pages 2411-2423

  Deik, A ^a   Johannes, B ^b   Rucker, J C ^c   Sanchez E ^c   Brodie, S E ^c   Deegan, E ^b   Landy, K ^c   Kajiwara, Y ^c   Scelsa, S ^b   Saunders Pullman, R ^b,c   Paisan Ruiz C ^c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b BETH ISRAEL MEDICAL CENTER   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Autosomal recessive; Boucher Neuh user; Chorioretinal dystrophy; Hypogonadotropic hypogonadism; NTE domain; PNPLA6 mutations

Indexed keywords

GENOMIC DNA; PHOSPHOLIPASE; PNPLA6 PROTEIN, HUMAN;

ADULT; ARTICLE; ATAXIC GAIT; AUTOSOMAL RECESSIVE DISORDER; BOUCHER NEUHAUSER SYNDROME; CASE REPORT; ELECTROMYOGRAPHY; EXON; FEMALE; GENE; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; INTRON; MIDDLE AGED; MITOCHONDRIAL GENOME; MONTREAL COGNITIVE ASSESSMENT; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPTICAL COHERENCE TOMOGRAPHY; PNPLA6 GENE; PRIORITY JOURNAL; VESTIBULOOCULAR REFLEX; VISUAL ACUITY; ATAXIA; GENETICS; HETEROZYGOTE; HYPOGONADISM; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; RETINA DEGENERATION; RETINA DYSTROPHY; SPINOCEREBELLAR DEGENERATION;

AGE OF ONSET; ATAXIA; EXONS; FEMALE; HETEROZYGOTE; HUMANS; HYPOGONADISM; MIDDLE AGED; MUTATION; PHOSPHOLIPASES; RETINAL DEGENERATION; RETINAL DYSTROPHIES; SPINOCEREBELLAR ATAXIAS;

EID: 84921936684     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7516-3     Document Type: Article

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