Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers
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2018 ◽
Vol 6
(6)
◽
pp. 1168-1180
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2019 ◽
Vol 50
(6)
◽
pp. 2247-2251
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