Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family.
The authors describe a family of Sephardic Jews with progressive external ophthalmoparesis, skeletal muscle weakness, and parkinsonism. Autosomal recessive inheritance was suggested by many consanguineous marriages, although a dominant disorder could not be excluded. No linkage to known progressive external ophthalmoparesis locus was found. The presence of cytochrome c oxidase-negative ragged-red fibers, biochemically reduced respiratory chain complexes, and multiple mitochondrial DNA deletions in muscle biopsies from four patients suggested a new mitochondrial disorder of intergenomic communication.
Casali
C
C
Neurological Institute, "La Sapienza" University, Rome, Italy. carlo.casali@unizoma1.it
Bonifati
V
V
Santorelli
F M
FM
Casari
G
G
Fortini
D
D
Patrignani
A
A
Fabbrini
G
G
Carrozzo
R
R
D'Amati
G
G
Locuratolo
N
N
Vanacore
N
N
Damiano
M
M
Pierallini
A
A
Pierelli
F
F
Amabile
G A
GA
Meco
G
G
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007585:Jews; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000208:ethnology / Q000235:genetics*; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree
D004272:DNA, Mitochondrial