A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation

Neuromuscular Disorders

Volumn 23, Issue 6, 2013, Pages 478-482

  Neri, M ^a   Selvatici, R ^a   Scotton, C ^a   Trabanelli, C ^a   Armaroli, A ^a   De Grandis, D ^b   Levy, N ^c   Gualandi, F ^a   Ferlini, A ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b UILDM   (Italy)

^c INSERM   (France)

Author keywords

Array CGH; Limb girdle muscular dystrophy; TRIM32

Indexed keywords

ACTION POTENTIAL; ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; ELECTROMYOGRAPHY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HIGH THROUGHPUT SCREENING; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY 2H; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYALGIA; NONSENSE MUTATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; TRIM32 GENE;

ADULT; CODON, NONSENSE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HETEROZYGOTE; HUMANS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; PHENOTYPE; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 84878661587     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.02.003     Document Type: Article

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