Article
Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene.
Journal of neuromuscular diseases - 1 Jan 2021
Bardakov Sergey N, Deev Roman V, Magomedova Raisat M, Umakhanova Zoya R, Allamand Valérie, Gartioux Corine, Zulfugarov Kamil Z, Akhmedova Patimat G, Tsargush Vadim A, Titova Angelina A, Mavlikeev Mikhail O, Zorin Vadim L, Chernets Ekaterina N, Dalgatov Gimat D, Konovalov Fedor A, Isaev Artur A
Abstract excerpt
A family of five male siblings (three survivors at 48, 53 and 58 years old; two deceased at 8 months old and 2.5 years old) demonstrating significant phenotypic variability ranging from intermediate to the myosclerotic like Bethlem myopathy is presented. Whole-exome sequencing (WES) identified a new homozygous missense mutation chr21:47402679 T > C in the canonical splice donor site of the second intron...
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