Original paper
EP.127Ullrich congenital muscular dystrophy in a boy with 21q22.3 deletion: a revisited diagnosis
Abstract
Ullrich congenital muscular dystrophy (UCMD) is among the collagen VI-related muscular dystrophies. Recently, large genomic deletions on one allele involving COL6A2 or both COL6A1 and COL6A2 unmasking a pathogenic mutation on the second nondeleted allele have also been described in the etiology. Case presentation: A 127/12 -year-old boy presented to our clinic at the age of 105/12 years with the main complaints of easy fatigability, muscle...
Paper Details
Title
EP.127Ullrich congenital muscular dystrophy in a boy with 21q22.3 deletion: a revisited diagnosis
Published Date
Oct 1, 2019
Journal
Volume
29
Pages
S205 - S205
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Notes
History