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

被引：0

作者：

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

机构：

[1] University of Colombo,Human Genetics Unit, Department of Anatomy, Faculty of Medicine

[2] Neuromuscular and Neurogenetic Disorders of Childhood Section,Faculty of Medicine and Allied Sciences

[3] Neurogenetics Branch,undefined

[4] NINDS,undefined

[5] National Institutes of Health,undefined

[6] Rajarata University of Sri Lanka,undefined

[7] Saliyapura,undefined

[8] Lady Ridgeway Hospital for Children,undefined

来源：

BMC Neurology | / 21卷

关键词：

Case report; Collagen type VI; Consanguineous; Myopathy; Phenotypic heterogeneity; Ullrich congenital muscular dystrophy;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

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