ISSN:
1432-1459
Keywords:
Ophthalmoplegia, progressive external
;
Myotonia
;
Muscle hypertrophy
;
Muscle glycogen storage
;
Inheritance, autosomal recessive
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary A 32-year-old female presented with progressive external ophthalmoplegia (PEO) and multisystem abnormalities, strikingly associated with myotonia and muscle hypertrophy. These two features were not found in her brother, who had a complex neuromuscular disorder complicating chronic PEO. In both subjects muscle biopsy revealed “ragged-red” fibres and myofibres containing glycogen granules, which were never bound by membranes. A severe demyelinating neuropathy was revealed by electrophysiological and morphological studies. Cranial CT scan showed extensive demyelination of the cerebral white matter. Genetic studies demonstrated that this familial syndrome is transmitted as an autosomal recessive trait.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00313909
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