Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy

Clinical Genetics

Volumn 87, Issue 4, 2015, Pages 395-397

  Miyatake, S ^a   Tada, H ^b   Moriya, S ^a   Takanashi, J ^c   Hirano, Y ^d   Hayashi, M ^e   Oya, Y ^f   Nakashima, M ^a   Tsurusaki, Y ^a   Miyake, N ^a   Matsumoto, N ^a   Saitsu, H ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Chibaken Saiseikai Narashino Hospital   (Japan)

^c Tokyo Women s Medical University   (Japan)

^d TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^e TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^f NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AREFLEXIA; ATAXIA; CASE REPORT; COPY NUMBER VARIATION; DYSARTHRIA; DYSPHAGIA; EXON; FACIAL NERVE PARALYSIS; FEMALE; GENE MUTATION; GIANT AXONAL NEUROPATHY; HETEROZYGOSITY LOSS; HOMOZYGOSITY; HUMAN; IMMOBILITY; INTELLECTUAL IMPAIRMENT; LETTER; LEUKOENCEPHALOPATHY; MOTOR NEUROPATHY; MUSCLE ATROPHY; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NERVE BIOPSY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SCOLIOSIS; SENSORY DYSFUNCTION; SURAL NERVE; UNIPARENTAL DISOMY; WHITE MATTER LESION; YOUNG ADULT; DNA SEQUENCE; EXOME; GENETICS; HOMOZYGOTE; MOLECULAR GENETICS; NERVE CONDUCTION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHYSIOLOGY;

CYTOSKELETON PROTEIN; GAN PROTEIN, HUMAN;

BASE SEQUENCE; CYTOSKELETAL PROTEINS; EXOME; FEMALE; GIANT AXONAL NEUROPATHY; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MOLECULAR SEQUENCE DATA; NEURAL CONDUCTION; SEQUENCE ANALYSIS, DNA; UNIPARENTAL DISOMY;

EID: 84925271602     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12455     Document Type: Letter

References (7)

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