Phenotypic spectrum of Fukutinopathy: Most severe phenotype of Fukutinopathy

Brain and Development

Volumn 31, Issue 6, 2009, Pages 419-422

  Yoshioka, Mieko ^a  

^a Kobe City Pediatric and General Rehabilitation Center for the Challenged   (Japan)

Author keywords

Fukutin mutation; Fukuyama type congenital muscular dystrophy; Homozygous nonsense mutation; The most severe phenotype of Fukutinopathy; Walker Warburg syndrome

Indexed keywords

FUKUTIN;

ARTICLE; CASE REPORT; CHILD; DISEASE SEVERITY; EXON; FUKUTINOPATHY; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; HOMOZYGOSITY; HUMAN; INFANT; JAPAN; MALE; MUSCULAR DYSTROPHY; NONSENSE MUTATION; PHENOTYPE; TURKEY (REPUBLIC); WALKER WARBURG SYNDROME;

CHILD, PRESCHOOL; CHROMOSOME DISORDERS; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; MALE; MEMBRANE PROTEINS; MUSCULAR DYSTROPHIES; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PHENOTYPE; SYNDROME; TURKEY;

EID: 67349130286     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2008.07.012     Document Type: Article

References (9)

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