NARP-MILS syndrome caused by 8993 T > G mitochondrial DNA mutation: A clinical, genetic and neuropathological study

Acta Neuropathologica

Volumn 111, Issue 6, 2006, Pages 610-616

  Rojo, A ^a   Campos, Y ^d   Sanchez J M ^c   Bonaventura, I ^a   Aguilar, M ^a   Garcia A ^d   Gonzalez L ^b   Rey, M J ^e   Arenas, J ^d   Olive M ^f   Ferrer, I ^e,f  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL MÚTUA DE TERRASSA   (Spain)

^c HOSPITAL DE BASURTO   (Spain)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^e UNIVERSITY OF BARCELONA   (Spain)

^f HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

Author keywords

8993T to G mutation; ATP synthase; Leigh's syndrome; Mitochondrial disease; NARP; Striatum necrosis

Indexed keywords

LACTIC ACID; MITOCHONDRIAL DNA;

ADULT; ANAMNESIS; ARTICLE; ATAXIA; AUTOPSY; BASAL GANGLION; BRAIN ATROPHY; BRAIN CORTEX; BRAIN DAMAGE; BRAIN STEM; CASE REPORT; CEREBELLUM; CHOREA; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DELIRIUM; DNA DETERMINATION; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENETIC ANALYSIS; GENOME; HUMAN; HUMAN TISSUE; LACTATE BLOOD LEVEL; LEIGH DISEASE; MALE; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PSYCHOSIS; PUTAMEN; RETINITIS PIGMENTOSA; THALAMUS; VISUAL SYSTEM EXAMINATION;

ADENOSINE TRIPHOSPHATASES; ATAXIA; ATROPHY; BRAIN; CEREBELLAR DISEASES; DNA, MITOCHONDRIAL; HUMANS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; NEURONS; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; RETINITIS PIGMENTOSA; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 33646895827     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-006-0040-5     Document Type: Article

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