MERRF syndrome without ragged-red fibers: The need for molecular diagnosis

Biochemical and Biophysical Research Communications

Volumn 354, Issue 4, 2007, Pages 1058-1060

  Mancuso, Michelangelo ^a   Petrozzi, Lucia ^a   Filosto, Massimiliano ^b   Nesti, Claudia ^a   Rocchi, Anna ^a   Choub, Anna ^a   Pistolesi, Sabina ^b   Massetani, Roberto ^c   Fontanini, Gabriella ^a   Siciliano, Gabriele ^a  

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

^c Neurological Clinic   (Italy)

Author keywords

Genetic testing; MERRF; mtDNA; Ragged red fibers

Indexed keywords

CARNITINE; CLONAZEPAM; ETIRACETAM; MITOCHONDRIAL DNA; TRANSFER RNA; UBIDECARENONE; VALPROIC ACID;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ELECTROENCEPHALOGRAM; FAMILY HISTORY; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; HISTOCHEMISTRY; HISTOLOGY; HUMAN; HUMAN TISSUE; LACTATE BLOOD LEVEL; MALE; MERRF SYNDROME; MUSCLE BIOPSY; MYOCLONUS; MYOCLONUS EPILEPSY; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PRIORITY JOURNAL; QUALITY OF LIFE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEIZURE; SOUTHERN BLOTTING;

ADOLESCENT; ADULT; CHILD; HUMANS; MALE; MERRF SYNDROME; MUSCLE FIBERS, FAST-TWITCH; PIRACETAM;

EID: 33846799185     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2007.01.099     Document Type: Article

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