Large duplication in MTM1 associated with myotubular myopathy

Neuromuscular Disorders

Volumn 23, Issue 3, 2013, Pages 214-218

  Amburgey, K ^a   Lawlor, M W ^b   del Gaudio, D ^c   Cheng, Y W ^c   Fitzpatrick, C ^c   Minor, A ^c   Li, X ^a   Aughton, D ^d   Das, S ^c   Beggs, A H ^e   Dowling, J J ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

^d WILLIAM BEAUMONT HOSPITAL   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Congenital myopathy; Diagnostic testing; Gene duplication; MTM1; Myotubular myopathy

Indexed keywords

ACUTE RESPIRATORY FAILURE; ARTICLE; BIRTH WEIGHT; BREECH PRESENTATION; CASE REPORT; CENTRONUCLEAR MYOPATHY; CESAREAN SECTION; CHROMOSOMAL INSTABILITY; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME XQ; CLINICAL ARTICLE; CLINICAL EXAMINATION; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE SEVERITY; DYSPHAGIA; EXON; EXTRAOCULAR MUSCLE; FEMALE; FETUS MOVEMENT; GENE; GENE DELETION; GENE DUPLICATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MAMLD1 GENE; MOLECULAR DIAGNOSIS; MTM1 GENE; MUSCLE BIOPSY; MUSCLE WEAKNESS; NECK MUSCLE; NEWBORN; PATHOGENESIS; POSITIVE END EXPIRATORY PRESSURE; PRENATAL PERIOD; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RESPIRATORY TRACT INTUBATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION; SANGER SEQUENCING; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST; THIGH MUSCLE; WHOLE GENOME SEQUENCING; X CHROMOSOME; FATALITY; GENETIC SCREENING; GENETICS; INFANT; MYOPATHY;

MYOTUBULARIN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE;

FATAL OUTCOME; GENE DUPLICATION; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MYOPATHIES, STRUCTURAL, CONGENITAL; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR;

EID: 85027946146     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.11.010     Document Type: Article

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