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Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G > C; p.Gly12Ala point mutation

✍ Scribed by David O. Robinson; David Hilton-Jones; David Mansfield; Göran Darius Hildebrand; Sophie Marks; Dorothy Mechan; Joanne Ramsay

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P1.20 Clinical features of limb-girdle m

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Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G&#xa0;>&#xa0;C; p.Gly12Ala point mutation