Abstract:
:A large Swedish family with members affected by progressive external ophthalmoplegia with hypogonadism were followed-up and reviewed. Hypogonadism included delayed sexual maturation, primary amenorrhea, early menopause, and testicular atrophy. Cataracts, cerebellar ataxia, neuropathy, hypoacusia, pes cavus, tremor, parkinsonism, depression, and mental retardation were other features observed in this family. Muscle biopsy samples of advanced cases showed ragged-red fibers, focal cytochrome c oxidase deficiency, and multiple mtDNA deletions by Southern blot analysis. An autosomal dominant mode of inheritance was evident with anticipation in successive generations. Linkage analysis excluded the chromosome 10q23.3-q24.3 region reported as being linked to the disease in a Finnish family with autosomal dominant progressive external ophthalmoplegia. We report for the first time clinical evidence for anticipation in a family with autosomal dominant progressive external ophthalmoplegia. We hypothesize that the nuclear gene causing this enigmatic disorder may be directly influenced by an expansion of an unstable DNA sequence and that the resulting phenotype is caused by a concerted action with multiple deletions of mtDNA.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Melberg A,Arnell H,Dahl N,Stålberg E,Raininko R,Oldfors A,Bakall B,Lundberg PO,Holme Edoi
10.1002/(SICI)1097-4598(199612)19:12<1561::AID-MUSsubject
Has Abstractpub_date
1996-12-01 00:00:00pages
1561-9issue
12eissn
0148-639Xissn
1097-4598pii
10.1002/(SICI)1097-4598(199612)19:12<1561::AID-MUSjournal_volume
19pub_type
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