X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

Neuromuscular Disorders

Volumn 22, Issue 5, 2012, Pages 384-388

  Trump, N ^a   Cullup, T ^a   Verheij, J B G M ^b   Manzur, A ^c   Muntoni, F ^c   Abbs, S ^a   Jungbluth, H ^d,e  

^a GUY S HOSPITAL   (United Kingdom)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d ST THOMAS HOSPITAL   (United Kingdom)

^e KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Duplication; MRNA; Myotubularin (MTM1) gene; Rearrangement; X linked myotubular myopathy (XLMTM)

Indexed keywords

ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; CLINICAL EXAMINATION; CLINICAL FEATURE; CRYPTORCHISM; DEATH; DISEASE COURSE; DISEASE SEVERITY; EXON; FAMILY HISTORY; GENE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; INTRON; MALE; MTM1 GENE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; PRIORITY JOURNAL; RESPIRATORY FAILURE; X CHROMOSOME LINKED DISORDER; X LINKED MYOTUBULAR MYOPATHY;

CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DUPLICATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; INTRONS; MALE; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; SEQUENCE DELETION;

EID: 84859628621     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.11.004     Document Type: Article

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