Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

Neurology

Volumn 83, Issue 22, 2014, Pages 2054-2061

  Morino, Hiroyuki ^a   Pierce, Sarah B ^b   Matsuda, Yukiko ^a   Walsh, Tom ^b   Ohsawa, Ryosuke ^a   Newby, Marta ^c   Hiraki Kamon, Keiko ^a   Kuramochi, Masahito ^a   Lee, Ming K ^a,b   Klevit, Rachel E ^b   Martin, Alan ^c   Maruyama, Hirofumi ^a   King, Mary Claire ^b   Kawakami, Hideshi ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b UNIVERSITY OF WASHINGTON   (United States)

^c Texas Health Presbyterian Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DNA HELICASE; DNA PRIMASE; ESTRADIOL; FOLLITROPIN; IOFETAMINE I 123; LACTIC ACID; LUTEINIZING HORMONE; MITOCHONDRIAL DNA; PYRUVIC ACID; TWINKLE PROTEIN; UNCLASSIFIED DRUG; C10ORF2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

ADULT; ARTICLE; ATAXIA; ATAXIC GAIT; CASE REPORT; CEREBELLUM; CHROMOSOME 10; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; EUROPEAN; EXOME; EXTERNAL OPHTHALMOPLEGIA; EYE MOVEMENT DISORDER; FAMILY STUDY; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE MUTATION; GENE SEQUENCE; GONADAL DYSGENESIS; HEARING IMPAIRMENT; HEMIFACIAL ATROPHY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPESTHESIA; HYPOREFLEXIA; JAPANESE (PEOPLE); LUTEINIZING HORMONE BLOOD LEVEL; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MUSCLE ATROPHY; NEUROLOGIC DISEASE; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPEN READING FRAME; OVARY DISEASE; PERCEPTION DEAFNESS; PERRAULT SYNDROME; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SENSORY NEUROPATHY; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; SYNDROME; WHITE MATTER; AMINO ACID SEQUENCE; COMPLICATION; GENETICS; GONADAL DYSGENESIS, 46,XX; HEARING LOSS, SENSORINEURAL; MOLECULAR GENETICS; MUTATION; NERVOUS SYSTEM DISEASES; PEDIGREE; PROTEIN SECONDARY STRUCTURE; PROTEIN TERTIARY STRUCTURE;

ADULT; AMINO ACID SEQUENCE; DNA HELICASES; FEMALE; GONADAL DYSGENESIS, 46,XX; HEARING LOSS, SENSORINEURAL; HUMANS; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NERVOUS SYSTEM DISEASES; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY;

EID: 84941146214     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001036     Document Type: Article

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