Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy

QJM. 2024 Feb 7;117(1):61-62. doi: 10.1093/qjmed/hcad209.

Authors

S Xu¹, L Li^{2

3}, L Shen^{2

3}, X Wang^{2

3}, W Feng¹, S Liu^{2

3}

Affiliations

¹ Department of Anesthesiology, The Affiliated Hospital of Qingdao University, Qingdao, China.
² Medical Genetic Department, The Affiliated Hospital of Qingdao University, Qingdao, China.
³ Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, China.

PMID: 37738610
DOI: 10.1093/qjmed/hcad209

No abstract available

MeSH terms

Collagen Type VI / genetics
Humans
Muscular Dystrophies* / congenital
Muscular Dystrophies* / genetics
Mutation
RNA*
Sclerosis*

Substances

RNA
COL6A2 protein, human
Collagen Type VI

Supplementary concepts

Scleroatonic muscular dystrophy

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