Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities

Muscle and Nerve

Volumn 35, Issue 3, 2007, Pages 396-401

  Weiss, Claudia ^a   Jakubiczka, Sibylle ^b   Huebner, Angela ^c   Klopocki, Eva ^a   Kress, Wolfram ^d   Voit, Thomas ^e   Hübner, Christoph ^a   Schuelke, Markus ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b OTTO VON GUERICKE UNIVERSITY   (Germany)

^c UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^d UNIVERSITY OF WÜRZBURG   (Germany)

^e UNIVERSITY OF DUISBURG ESSEN   (Germany)

Author keywords

Adrenal hypoplasia; Duchenne muscular dystrophy; Gene duplication; Growth hormone deficiency; Macroglossia

Indexed keywords

GROWTH HORMONE; MESSENGER RNA;

ADRENAL DISEASE; ADRENAL HYPOPLASIA; ADRENARCHE; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DELAYED PUBERTY; DMD GENE; DNA SPLICING; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENOTYPE PHENOTYPE CORRELATION; GROWTH HORMONE DEFICIENCY; HUMAN; HYPOPLASIA; INTRACTABLE EPILEPSY; INTRON; MACROGLOSSIA; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; NIGHT VISION; PATHOGENESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SYMPTOM; X CHROMOSOME LINKED MUSCULAR DYSTROPHIC MOUSE;

ADRENAL INSUFFICIENCY; ADULT; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; ENDOCRINE SYSTEM DISEASES; EPILEPSY; EXONS; FRAMESHIFT MUTATION; GENE DUPLICATION; GENETIC MARKERS; GENOTYPE; GROWTH HORMONE; HUMANS; MACROGLOSSIA; MALE; MENTAL RETARDATION; MUSCULAR DYSTROPHY, DUCHENNE; PHENOTYPE; PITUITARY DISEASES; PROTEINS; PUBERTY, DELAYED; SYNDROME; TANDEM REPEAT SEQUENCES;

EID: 33847676235     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20705     Document Type: Article

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