Additional file 1 of Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review

Magri, Francesca; Antognozzi, Sara; Ripolone, Michela; Zanotti, Simona; Napoli, Laura; Ciscato, Patrizia; Velardo, Daniele; Scuvera, Giulietta; Nicotra, Valeria; Giacobbe, Antonella; Milani, Donatella; Fortunato, Francesco; Garbellini, Manuela; Sciacco, Monica; Corti, Stefania; Comi, Giacomo Pietro; Ronchi, Dario

doi:10.6084/m9.figshare.21251573.v1

13395_2022_306_MOESM1_ESM.pdf (463.84 kB)

Additional file 1 of Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review

journal contribution

posted on 2022-09-30, 06:15 authored by Francesca Magri, Sara Antognozzi, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Daniele Velardo, Giulietta Scuvera, Valeria Nicotra, Antonella Giacobbe, Donatella Milani, Francesco Fortunato, Manuela Garbellini, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi

Additional file1: Supplementary Table 1. Clinical, instrumental, histological and molecular features of CHKB-mutated MCMD patients reported so far (y: years; m: months; d: days; NA: not assessed; DCM: dilated cardiomyopathy; LVFS: left ventricular systolic function; PDA: Patent ductus arteriosus).