A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease

Brain and Development

Volumn 37, Issue 3, 2015, Pages 281-285

  Shimojima, Keiko ^a,b   Okumura, Akihisa ^c,d   Ikeno, Mitsuru ^c   Nishimura, Akira ^e   Saito, Akira ^f   Saitsu, Hirotomo ^g   Matsumoto, Naomichi ^g   Yamamoto, Toshiyuki ^b  

^a JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d AICHI MEDICAL UNIVERSITY   (Japan)

^e KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^f Kuramae Orashion Bldg 9F   (Japan)

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

Author keywords

Genetic counseling; Hypomyelinating leukoencephalopathy; Hypomyelination with atrophy of the basal ganglia and cerebellum (H ABC); Pelizaeus Merzbacher disease (PMD); TUBB4A

Indexed keywords

PROTEOLIPID PROTEIN; TUBB4A PROTEIN, HUMAN; TUBULIN;

ARTICLE; BASAL GANGLION; BRAIN; BRAIN ATROPHY; CASE REPORT; CEREBELLUM; CEREBELLUM ATROPHY; CHILD; EVOKED AUDITORY RESPONSE; EXOME; GENE; GENE MUTATION; GENETIC COUNSELING; HUMAN; INFANTILE HYPOTONIA; LEUKOENCEPHALOPATHY; MALE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; TUBULIN 4A GENE; ATROPHY; DEMYELINATING DISEASES; GENETICS; MUTATION; PATHOLOGY; PELIZAEUS-MERZBACHER DISEASE;

ATROPHY; BASAL GANGLIA; CEREBELLUM; CHILD, PRESCHOOL; DEMYELINATING DISEASES; HUMANS; MALE; MUTATION; PELIZAEUS-MERZBACHER DISEASE; TUBULIN;

EID: 84922828195     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2014.05.004     Document Type: Article

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