Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS

Journal of Molecular Neuroscience

Volumn 43, Issue 3, 2011, Pages 346-349

  Anesi, Laura ^a   De Gemmis, Paola ^a   Pandolfo, Massimo ^b   Hladnik, Uros ^a  

^a Baschirotto Institute for Rare Diseases   (Italy)

^b ERASME HOSPITAL   (Belgium)

Author keywords

ARSACS; Chromosome 13; Mutations; SACS gene; UPD isodisomy

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; CASE REPORT; CEREBELLAR ATAXIA; CHROMOSOME 13; DNA DETERMINATION; EXON; FEMALE; GENE; GENE SEQUENCE; GENETIC ANALYSIS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; SACS GENE; SEQUENCE TAGGED SITE; UNIPARENTAL DISOMY;

ADULT; CHROMOSOMES, HUMAN, PAIR 13; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HAPLOTYPES; HEAT-SHOCK PROTEINS; HOMOZYGOTE; HUMANS; MALE; MUSCLE SPASTICITY; MUTATION; PEDIGREE; PHENOTYPE; SPINOCEREBELLAR ATAXIAS; UNIPARENTAL DISOMY;

EID: 79955857697     PISSN: 08958696     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12031-010-9448-4     Document Type: Article

References (9)

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