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Fig. 2 | BMC Neurology

Fig. 2

From: Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report

Fig. 2

Pedigree and MYORG variants identified in the patient. a Family pedigree. Proband is indicated by arrow. Square represents male subject, circles represent female subjects, and diamonds represent the subjects whose gender was withheld for confidentiality reasons. Affected individuals are shown with solid symbols. Unaffected individuals or carriers are denoted with open symbols. Wt, wild type. b Electropherogram of the two identified MYORG variants. c Conservation of the variant residues across different species. d In-silico analysis and frequency in the populations of the two missense variants. ACMG-AMP, American College of Medical Genetics and Genomics and Association of Molecular Pathology

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BMC Neurology

ISSN: 1471-2377

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