Total: 1 |
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PMID (PMCID) | ||
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27618137 (5066368) |
FEMALE | Middle Aged |
Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation. | ||
Ng YS, Hardy SA, Shrier V, Quaghebeur G, Mole DR, Daniels MJ, Downes SM, Freebody J, Fratter C, Hofer M, Nemeth AH, Poulton J, Taylor RW. Neuromuscul Disord. 2016;26(10):702-705. |
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Subsequent multi-system manifestations included basal ganglia calcification, proteinuria, cataract and retinitis pigmentosa, prompting a repeat muscle biopsy that showed features consistent with mitochondrial myopathy 13 years later. |