The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations

Journal of Human Genetics

Volumn 61, Issue 10, 2016, Pages 899-902

  Hamatani, Mio ^a   Jingami, Naoto ^a   Tsurusaki, Yoshinori ^b   Shimada, Shino ^c   Shimojima, Keiko ^c   Asada Utsugi, Megumi ^a   Yoshinaga, Kenji ^a   Uemura, Norihito ^a   Yamashita, Hirofumi ^a   Uemura, Kengo ^a,d   Takahashi, Ryosuke ^a   Matsumoto, Naomichi ^b   Yamamoto, Toshiyuki ^c  

^a KYOTO UNIVERSITY   (Japan)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d Ishiki Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALANYL TRANSFER RNA SYNTHETASE 2; COMPLEMENTARY DNA; GENOMIC DNA; GONADOTROPIN; MESSENGER RNA; TRANSFER RNA; UNCLASSIFIED DRUG; ALANINE TRANSFER RNA LIGASE; BIOLOGICAL MARKER;

AARS2 GENE; ABNORMAL BEHAVIOR; ADULT; APHASIA; ARTICLE; ATOPIC DERMATITIS; BEHAVIOR CHANGE; BRAIN ATROPHY; CASE REPORT; COGNITIVE DEFECT; CORPUS CALLOSUM; DISEASE ASSOCIATION; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENOME ANALYSIS; GONADOTROPIN BLOOD LEVEL; GONADOTROPIN RELEASE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; HYPERREFLEXIA; IDEOMOTOR APRAXIA; JAPANESE (PEOPLE); LEUKODYSTROPHY; MINI MENTAL STATE EXAMINATION; MISSENSE MUTATION; MUSCLE RIGIDITY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARY INSUFFICIENCY; RNA ANALYSIS; RNA SPLICING; SECONDARY AMENORRHEA; SEQUENCE ANALYSIS; SPLICE SITE MUTATION; WHITE MATTER; ALLELE; BRAIN; DNA MUTATIONAL ANALYSIS; GENETICS; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; JAPAN; MUTATION; PATHOLOGY; PRIMARY OVARIAN INSUFFICIENCY; SYNDROME;

ADULT; ALANINE-TRNA LIGASE; ALLELES; BIOMARKERS; BRAIN; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC LOCI; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HETEROZYGOTE; HUMANS; JAPAN; MAGNETIC RESONANCE IMAGING; MUTATION; PRIMARY OVARIAN INSUFFICIENCY; SYNDROME;

EID: 84992361719     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2016.64     Document Type: Article

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