Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation

Journal of Child Neurology

Volumn 27, Issue 2, 2012, Pages 204-208

  Li, Sing Chung ^a   Hwu, Wuh Liang ^b   Lin, Ju Li ^c   Bali, Deeksha S ^d   Yang, Chen ^e   Chu, Shih Ming ^c   Chien, Yin Hsiu ^b   Chou, Hung Chieh ^b   Chen, Chien Yi ^b   Hsieh, Wu Shiun ^b   Tsao, Po Nien ^b   Chen, Yuan Tsong ^f   Lee, Ni Chung ^b  

^a TAIPEI MEDICAL UNIVERSITY   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^c CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

^e TAIPEI MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^f INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

Author keywords

congenital hypotonia; GBE1 gene; glycogen branching enzyme; glycogen storage disease type IV; large deletion

Indexed keywords

CREATINE KINASE;

APGAR SCORE; ARTICLE; ARTIFICIAL VENTILATION; BRADYCARDIA; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CONGENITAL DISORDER; CREATINE KINASE BLOOD LEVEL; CYANOSIS; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; GENETIC ASSOCIATION; GLYCOGEN STORAGE DISEASE TYPE 4; HEART LEFT VENTRICLE EJECTION FRACTION; HUMAN; HYPERAMMONEMIA; HYPOGLYCEMIA; INFANT; INFANT MORTALITY; INFANTILE HYPOTONIA; MALE; MUSCLE BIOPSY; NEUROMUSCULAR DISEASE; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SMALL FOR DATE INFANT;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; ALLELES; FATAL OUTCOME; FEMALE; FRAMESHIFT MUTATION; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; INFANT; INFANT, NEWBORN; MALE; SEQUENCE DELETION;

EID: 84863165666     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811415107     Document Type: Article

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