Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Lieber, Daniel S ^a,b,c   Vafai, Scott B ^a,b,c   Horton, Laura C ^a   Slate, Nancy G ^a   Liu, Shangtao ^a   Borowsky, Mark L ^a,c   Calvo, Sarah E ^a,b,c   Schmahmann, Jeremy D ^a   Mootha, Vamsi K ^a,b,c  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; THIAMINE; MEMBRANE PROTEIN; WOLFRAMIN PROTEIN;

ADULT; ARTICLE; AUTONOMIC NEUROPATHY; BRAIN ATROPHY; CASE REPORT; COGNITIVE DEFECT; DIABETES MELLITUS; EXOME; EXON; GENE DELETION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; OPTIC NERVE ATROPHY; PHENOTYPE; THIAMINE DEFICIENCY; WOLFRAM SYNDROME; ATROPHY; BRAIN; CHEMISTRY; DIFFERENTIAL DIAGNOSIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ATROPHY; BRAIN; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; EXOME; EXONS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; WOLFRAM SYNDROME;

EID: 84855449720     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-3     Document Type: Article

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