Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family

Neurology

Volumn 56, Issue 6, 2001, Pages 802-805

  Casali, Carlo ^a   Bonifati, V ^a   Santorelli, F M ^a   Casari, G ^b   Fortini, D ^a   Patrignani, A ^b   Fabbrini, G ^a   Carrozzo, R ^c   D'Amati, G ^a   Locuratolo, N ^a   Vanacore, N ^a   Damiano, M ^a   Pierallini, A ^a   Pierelli, F ^d   Amabile, G A ^a   Meco, G ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d IRCCS NEUROMED   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONSANGUINEOUS MARRIAGE; EXTERNAL OPHTHALMOPLEGIA; FAMILY STUDY; FEMALE; GENE DELETION; GENE LOCUS; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; PARKINSONISM; PRIORITY JOURNAL; RESPIRATORY CHAIN;

EID: 0035957304     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.56.6.802     Document Type: Article

References (9)

1. Mitochondria in neuromuscular disorders
2. A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia
3. Disorders of nuclear-mitochondrial intergenomic signalling
4. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
5. Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter
6. Abnormalities of the electron transport chain in idiopathic Parkinson's disease
7. Origin and functional consequences of the complex I defect in Parkinson's disease
8. Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation