Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

Molecular Genetics and Metabolism

Volumn 103, Issue 4, 2011, Pages 383-387

  Schaaf, Christian P ^a   Blazo, Maria ^b   Lewis, Richard Alan ^a   Tonini, Ross E ^a   Takei, Hidehiro ^c   Wang, Jing ^c   Wong, Lee J ^a   Scaglia, Fernando ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b SCOTT AND WHITE MEMORIAL HOSPITAL   (United States)

^c HOUSTON METHODIST HOSPITAL   (United States)

Author keywords

Compound heterozygosity; Mitochondrial dysfunction; Neurological disease; Optic atrophy; Semi dominant inheritance

Indexed keywords

MITOCHONDRIAL DNA; NUCLEAR PROTEIN; OPA1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; AUDIOLOGY; AUTOSOMAL DOMINANT OPTIC ATROPHY; CASE REPORT; CHILD; CONTROLLED STUDY; DIVERGENT STRABISMUS; DOMINANT INHERITANCE; DYSPHAGIA; ELECTRON MICROSCOPY; FEMALE; FRAMESHIFT MUTATION; GASTROINTESTINAL MOTILITY DISORDER; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC RISK; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; NYSTAGMUS; ONSET AGE; OXIDATIVE STRESS; PHENOTYPE; PREMATURE LABOR; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; SKELETAL MUSCLE; SPECTROPHOTOMETRY; VISUAL SYSTEM EXAMINATION; WALKING DIFFICULTY;

AGE OF ONSET; ATAXIA; CHILD; CHILD, PRESCHOOL; DEGLUTITION DISORDERS; DNA, MITOCHONDRIAL; GTP PHOSPHOHYDROLASES; HETEROZYGOTE; HUMANS; MALE; MUSCLE HYPOTONIA; MUTATION; NEUROMUSCULAR DISEASES; OPTIC ATROPHY; PEDIGREE; PHENOTYPE;

EID: 79960847088     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.04.018     Document Type: Article

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