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

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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;
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