Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

Neuromuscular Disorders

Volumn 18, Issue 3, 2008, Pages 204-209

  Filosto, Massimiliano ^a,b   Tonin, Paola ^a   Scarpelli, Mauro ^a   Savio, Chiara ^a   Greco, Francesca ^c   Mancuso, Michelangelo ^d   Vattemi, Gaetano ^a   Govoni, Vittorio ^e   Rizzuto, Nicolò ^a   Tupler, Rossella ^c   Tomelleri, Giuliano ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b SPEDALI CIVILI   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^d UNIVERSITY OF PISA   (Italy)

^e UNIVERSITY OF FERRARA   (Italy)

Author keywords

FSHD; Mitochondrial myopathy; mtDNA

Indexed keywords

CELL NUCLEUS DNA; LEUCINE; MITOCHONDRIAL DNA; TRANSFER RNA;

ADULT; ARTICLE; CASE REPORT; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE DELETION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROPLASMY; HUMAN; HUMAN TISSUE; MITOCHONDRIAL MYOPATHY; MITOCHONDRION; MOTHER; MUSCLE BIOPSY; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

BASE SEQUENCE; BIOPSY; DNA, MITOCHONDRIAL; FEMALE; GENE DELETION; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; NUCLEIC ACID CONFORMATION; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA, TRANSFER, LEU;

EID: 41549142597     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.12.005     Document Type: Article

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