A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

Abstract Background Collagen VI-related dystrophies are a subtype of congenital muscular dystrophy caused by pathogenic variants in COL6A1, COL6A2 or COL6A3 genes affecting skeletal muscles and connective tissue. The clinical phenotype ranges from the milder Bethlem myopathy to the severe Ullrich co...

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Bibliographic Details
Main Authors: Nirmala Dushyanthi Sirisena, U. M. Jayami Eshana Samaranayake, Osorio Lopes Abath Neto, A. Reghan Foley, B. A. P. Sajeewani Pathirana, Nilaksha Neththikumara, C. Sampath Paththinige, Pyara Rathnayake, Sandra Donkervoort, Carsten G. Bönnemann, Vajira H. W. Dissanayake
Format: Article
Language:English
Published: BMC 2021-03-01
Series:BMC Neurology
Subjects:
Case report
COL6A1
Collagen type VI
Consanguineous
Myopathy
Phenotypic heterogeneity
Online Access:https://doi.org/10.1186/s12883-021-02134-7

Internet

https://doi.org/10.1186/s12883-021-02134-7

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