Partial PLP1 deletion causing x-linked dominant spastic paraplegia type 2

Pediatric Neurology

Volumn 49, Issue 6, 2013, Pages 477-481

  Matsufuji, Mayumi ^a   Osaka, Hitoshi ^b   Gotoh, Leo ^c   Shimbo, Hiroko ^b   Takashima, Sachio ^a   Inoue, Ken ^c  

^a Yanagawa Institute for Developmental Disabilities   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^c NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

deletion; hypomyelinating leukodystrophy; myelin; non homologous end joining; palindrome; Pelizaeus Merzbacher disease; proteolipid protein 1; spastic paraplegia type 2

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; EVOKED BRAIN STEM AUDITORY RESPONSE; GENE; GENE DELETION; GENETIC ANALYSIS; HUMAN; MALE; MOTOR DEVELOPMENT; NEUROIMAGING; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; PROTEOLIPID PROTEIN 1 GENE; SPASTIC PARAPLEGIA;

DELETION; HYPOMYELINATING LEUKODYSTROPHY; MYELIN; NON-HOMOLOGOUS END JOINING; PALINDROME; PELIZAEUS-MERZBACHER DISEASE; PROTEOLIPID PROTEIN 1; SPASTIC PARAPLEGIA TYPE 2;

ADULT; BRAIN; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MYELIN PROTEOLIPID PROTEIN; SEQUENCE DELETION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84888266563     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2013.07.012     Document Type: Article

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