MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I

Neuromuscular Disorders

Volumn 22, Issue 11, 2012, Pages 990-994

  Lamperti, Costanza ^a   Diodato, Daria ^a   Lamantea, Eleonora ^a   Carrara, Franco ^a   Ghezzi, Daniele ^a   Mereghetti, Paolo ^b   Rizzi, Romana ^c   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b EML Research gGmbH   (Germany)

^c S MARIA NUOVA HOSPITAL   (Italy)

Author keywords

COX; Cytochrome c oxidase; MELAS; Mitochondrial disorder; MTCOI; MtDNA; Mutation; Ragged red fibers; Respiratory chain; SDH; Stroke like episode

Indexed keywords

CYTOCHROME C OXIDASE; CYTOCHROME C OXIDASE SUBUNIT 1; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; APHASIA; ARTICLE; CASE REPORT; CEREBROVASCULAR ACCIDENT; CONTROLLED STUDY; CYBRID; DNA SEQUENCE; ENZYME ACTIVITY; EXERCISE TOLERANCE; FEMALE; GENE; GENE MUTATION; HEARING IMPAIRMENT; HETEROPLASMY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGONADISM; MELAS SYNDROME; MIGRAINE; MTCOI GENE; MUSCLE BIOPSY; MUSCLE MITOCHONDRION; MUSCLE WEAKNESS; MYALGIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PARIETAL LOBE; PRIORITY JOURNAL; SECONDARY AMENORRHEA; SHORT STATURE; TONIC CLONIC SEIZURE;

CYTOCHROME-C OXIDASE DEFICIENCY; DISEASE PROGRESSION; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MELAS SYNDROME; MUSCULAR DISEASES; MUTATION; PEDIGREE; POINT MUTATION; PROTEIN SUBUNITS; SEIZURES;

EID: 84868138627     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.06.003     Document Type: Article

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