Fig. 1: Clinical features of patients. | European Journal of Human Genetics

Fig. 1: Clinical features of patients.

From: Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism

Fig. 1

Left panel: A–C Sagittal and coronal T2 weighted imaging (WI), and coronal T1-WI brain MRI imagines from proband 1, showing selective atrophy of the cerebellum including the vermis and cerebellar hemispheres (arrow, B, C) and abnormal signal changes affecting the dentate nuclei (asterisks, B, C). D, E Sagittal T2-WI and coronal T1-WI brain MRI imagines from proband 2 showing pointed cerebellar tonsils slightly displaced caudally resulting effacement of the CSF columns through the craniocervical junction (borderline Chiari type 1 deformity). Right panel: F, G Stills extracted from a walking video depicting proband 1’s gait. H Pure-tone audiogram for the proband 1, showing elevated air conduction thresholds in dB hearing level for the right (red circles) and left ears (blue crosses). Bone conduction thresholds for the right ear are indicated by ‘<‘. I–K Clinical photographs of the proband 1.

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