2018
DOI: 10.1016/j.ymgmr.2018.08.001
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Whole exome sequencing may be insufficient to cover the causality spectrum of rhabdomyolysis

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Cited by 2 publications
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“…We read Sambuughin et al's article about patients with recurrent exertional rhabdomyolysis [1] and the correspondence by Finsterer and Mahjoub [2] with interest.…”
mentioning
confidence: 99%
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“…We read Sambuughin et al's article about patients with recurrent exertional rhabdomyolysis [1] and the correspondence by Finsterer and Mahjoub [2] with interest.…”
mentioning
confidence: 99%
“…The investigation for subtle enzymatic functional changes [1,3] or the different amount of muscular dystrophy proteins may help elucidate the functional significance of these heterozygous variants. Biochemical analytes study such as acylcarnitine profiles [2] mentioned by one correspondence is not sensitive or specific enough to detect the effect of these heterozygous variants. Surprisingly, we identified a pathogenic variant in GLA, known to cause Fabry disease in one patient.…”
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confidence: 99%
“…We thank Drs. J. Finsterer and S. Zarrouk-Mahjoub for their thoughtful comments [ 1 ] to our manuscript [ 2 ]. The clinical presentation of rhabdomyolysis including exertional rhabdomyolysis is highly variable.…”
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confidence: 99%