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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Subjects: Male; Pathology; Triad

  • Source: Acta Neuropathologica CommunicationsActa Neuropathologica Communications, BioMed Central part of Springer Science, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩Acta

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La myopathie à agrégats tubulaires et le syndrome de Stormorken

Subjects: 0301 basic medicine; Calcium metabolism; medicine.medical_specialty

  • Source: médecine/sciencesmédecine/sciences, EDP Sciences, 2018, 34, pp.26-31. ⟨10.1051/medsci/201834s208⟩médecine/sciences, 2018, 34, pp.26-31. ⟨10.1051/medsci/201834s208⟩

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  • 1-3 of  3 نتائج ل ""Johann Böhm""