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Symptoms may include wheezing
Garcia-Marcos L, Gonzlez-Daz C, Garvajal-Uruea I, PacSa MR, Busquets-Monge RM, Surez-Varela MM, et al
Bearpark MJ, Blancafort L, Robb MA
Challenges in diagnostic consistency arise due to the lack of standardized quality assurance schemes for MRC enzyme assessment, along with the risk of misdiagnosis from improper storage of skeletal muscle samples, resulting in reduced mt DNA levels and MRC enzyme activity
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