Neuromuscular syndrome associated with the 3291T→C mutation of mitochondrial DNA: A second case

Neuromuscular Disorders

Volumn 10, Issue 6, 2000, Pages 415-418

  Uziel, Graziella ^a   Carrara, Franco ^a   Granata, Tiziana ^a   Lamantea, Eleonora ^a   Mora, Marina ^a   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

3291T C; mtDNA mutation; Myopathy; Neuromuscular syndrome

Indexed keywords

ARTICLE; CASE REPORT; FEMALE; HUMAN; HUMAN TISSUE; MOLECULAR GENETICS; MUSCLE BIOPSY; MUTATION; MYOPATHY; NEUROMUSCULAR DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

BIOPSY, NEEDLE; CELIAC DISEASE; CHILD; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; FEMALE; HUMANS; MELAS SYNDROME; MITOCHONDRIAL MYOPATHIES; MUSCLE FIBERS, FAST-TWITCH; MUSCLE, SKELETAL; NEUROMUSCULAR DISEASES; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0034256023     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00115-7     Document Type: Article

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