Atypical Chédiak-Higashi syndrome with attenuated phenotype: Three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Weisfeld Adams, James D ^a   Mehta, Lakshmi ^a   Rucker, Janet C ^a   Dembitzer, Francine R ^a   Szporn, Arnold ^a   Lublin, Fred D ^a   Introne, Wendy J ^b   Bhambhani, Vikas ^b   Chicka, Michael C ^c   Cho, Catherine ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c Prevention Genetics   (United States)

Author keywords

Amyloid; Ch diak Higashi syndrome; Lysosomal; LYST; Neurodegenerative disease; Oxidative stress; Parkinsonism

Indexed keywords

ASPARAGINE; CARBIDOPA PLUS LEVODOPA; CELL PROTEIN; LYSOSOMAL TRAFFICKING PROTEIN; THREONINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ARTICLE; ATYPICAL CHEDIAK HIGASHI SYNDROME; BASE PAIRING; CASE REPORT; CHEDIAK HIGASHI SYNDROME; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DNA ISOLATION; ELECTROMYOGRAPHY; FEMALE; GENE DELETION; GENE MAPPING; GENE SEGREGATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; HOMOZYGOSITY; HUMAN; MALE; NEUROIMAGING; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OXIDATIVE STRESS; PAKISTAN; PARKINSONISM; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY;

ADULT; CHEDIAK-HIGASHI SYNDROME; FEMALE; GENETIC TESTING; HUMANS; MALE; NEURODEGENERATIVE DISEASES; PAKISTAN; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SIBLINGS; VESICULAR TRANSPORT PROTEINS;

EID: 84875151822     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-46     Document Type: Article

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