A second MNGIE patient without typical mitochondrial skeletal muscle involvement

Neurological Sciences

Volumn 31, Issue 4, 2010, Pages 491-494

  Cardaioli, Elena ^a   Da Pozzo, Paola ^a   Malfatti, Edoardo ^a   Battisti, Carla ^a   Gallus, Gian Nicola ^a   Gaudiano, Carmen ^a   MacUcci, Marco ^b   Malandrini, Alessandro ^a   Margollicci, Maria ^a   Rubegni, Anna ^a   Dotti, Maria Teresa ^a   Federico, Antonio ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b S Giuseppe Hospital   (Italy)

Author keywords

MNGIE syndrome; MtDNA; Muscle biopsy; Thymidine phosphorylase gene

Indexed keywords

FAT DROPLET; LACTIC ACID; PYRUVIC ACID; SUCCINATE DEHYDROGENASE (UBIQUINONE); BIOLOGICAL MARKER; MITOCHONDRIAL DNA;

ABDOMINAL PAIN; ADULT; ARTICLE; AUDIOMETRY; CASE REPORT; DEMYELINATING NEUROPATHY; DIARRHEA; ELECTROMYOGRAM; GASTROINTESTINAL MOTILITY DISORDER; GENE; GENE MUTATION; GENE SEQUENCE; HEART ARREST; HUMAN; HUMAN TISSUE; MALE; MNGIE SYNDROME; MUSCLE BIOPSY; MUSCLE MITOCHONDRION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PARENTERAL NUTRITION; PERCEPTION DEAFNESS; SKELETAL MUSCLE; TYMP GENE; VOMITING; WEIGHT REDUCTION; BIOPSY; CONSANGUINITY; ELECTRODIAGNOSIS; ELECTROMYOGRAPHY; FATALITY; GASTROINTESTINAL DISEASE; GENETICS; HEARING LOSS; HEMISPHERIC DOMINANCE; MITOCHONDRIAL ENCEPHALOMYOPATHY; PATHOLOGY; PHYSIOLOGY; ULTRASTRUCTURE;

ADULT; BIOLOGICAL MARKERS; BIOPSY; CONSANGUINITY; DNA, MITOCHONDRIAL; ELECTRODIAGNOSIS; ELECTROMYOGRAPHY; FATAL OUTCOME; FUNCTIONAL LATERALITY; GASTROINTESTINAL DISEASES; HEARING LOSS, BILATERAL; HUMANS; MALE; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE FIBERS, SKELETAL; MUSCLE, SKELETAL; VOMITING;

EID: 77958146602     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-010-0225-5     Document Type: Article

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