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Distal myopathy with tubular aggregates: a new phenotype associated with multiple deletions in mitochondrial DNA?

¹ National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
² Department of Neuropathology, Institute of Neurology, Queen Square, London WC1N 3BG, UK
³ Department of Neurology, Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK

Correspondence to:
Correspondence to:
Dr P Garrard
p.garrard@ucl.ac.uk

Keywords: distal myopathy; multiple mtDNA deletions; tubular aggregates

The first 150 words of the full text of this article appear below.

Multiple deletions of mitochondrial DNA (mtDNA) are recognised in association with a number of clinical phenotypes, including chronic progressive external ophthalmoplegia (CPEO) and myoneurogastrointestinal encephalopathy (MNGIE). The abnormality may be sporadic or inherited in a recessive or autosomal dominant fashion and is generally considered to be secondary to an abnormality of nuclear DNA.¹

Tubular aggregates (TA) are histological bodies consisting of densely packed, double walled tubules 50–70 nm in diameter, originating from the lateral sacs of the sarcoplasmic reticulum.² Their functional significance remains controversial: in a small group of progressive myopathies, TA form the dominant or even the sole structural abnormality, but more commonly they appear as an accessory histopathological feature in a wide variety of neuromuscular disorders, both inherited and acquired. The strongest association appears to be with periodic paralysis and myotonic disorders, but the finding is by no means consistent, and TA are never more than a minor . . . [Full text of this article]