Abstract
Tubular aggregates (TAs) are cytoplasmic aggregates of membranous tubules derived from the sarcoplasmic reticulum and usually 50–70 nm in diameter [1]. They may be seen in a range of genetic myopathies, including gyrate atrophy caused by ornithine aminotransferase deficiency, periodic paralysis and two disorders of glycosylation caused by mutations in the GFPT1 and DPAGT1 genes [2, 3]. In addition, they may occur as a minor or inconsistent feature in a wide range of myopathies or be the predominant feature in idiopathic or congenital myopathies [4]. However, the mechanisms underlying TA formation remain poorly understood. We now report the development of TAs in a patient with a lipid remodelling disorder, providing new insight into the formation of TAs.
Highlights
Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy
They may be seen in a range of genetic myopathies, including gyrate atrophy caused by ornithine aminotransferase deficiency, periodic paralysis and two disorders of glycosylation caused by mutations in the GFPT1 and DPAGT1 genes [2,3]
We report the case of a 13-year-old boy with a progressive mitochondrial encephalopathy in the Leigh syndrome spectrum
Summary
Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy. We report the development of TAs in a patient with a lipid remodelling disorder, providing new insight into the formation of TAs. We report the case of a 13-year-old boy with a progressive mitochondrial encephalopathy in the Leigh syndrome spectrum.
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