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Andrea Gaudio1, Fabio Gotta1, Clarissa Ponti1,2

  • 1IRCCS Ospedale Policlinico San Martino-UOC Genetica Medica, Genova, Italy.

Frontiers in neurology
|November 15, 2023
PubMed
概括

遗传性肌肉病的遗传检测是复杂的. 这项研究在一个患有肌性症状的家族中发现了UBR4和HSPG2基因的两种罕见变异,突出了诊断挑战和基因型-表型相关性.

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