Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration

Clinical Genetics

Volumn 84, Issue 4, 2013, Pages 350-355

  Dogu, O ^a   Krebs, Ce ^b   Kaleagasi, H ^a   Demirtas, Z ^a   Oksuz, N ^a   Walker, Rh ^b,c   Paisan Ruiz C ^b,d  

^a MERSIN UNIVERSITY   (Turkey)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

^d Department of Psychiatry ^*  (United States)

Author keywords

Adult onset NBIA; Autozygosity mapping; C19orf12; Rapid disease progression

Indexed keywords

BENSERAZIDE PLUS LEVODOPA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRADYKINESIA; C19ORF12 GENE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; GENE; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENE STRUCTURE; GENETIC TRANSCRIPTION; GENOTYPE; HETEROZYGOSITY LOSS; HOMOZYGOSITY; HUMAN; MALE; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE;

ADULT-ONSET NBIA; AUTOZYGOSITY MAPPING; C19ORF12; RAPID DISEASE PROGRESSION;

ADULT; AGE OF ONSET; BRAIN; CHROMOSOMES, HUMAN, PAIR 19; CONSANGUINITY; DISEASE PROGRESSION; FATAL OUTCOME; HUMANS; LOSS OF HETEROZYGOSITY; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; NEURODEGENERATIVE DISEASES; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84883789623     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12079     Document Type: Article

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