NovelCol12A1variant expands the clinical picture of congenital myopathies with extracellular matrix defects-Reference-Cited by-同舟云学术

NovelCol12A1variant expands the clinical picture of congenital myopathies with extracellular matrix defects

Published:2016-11-30 Issue:2 Volume:55 Page:277-281
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Punetha Jaya¹²,Kesari Akanchha¹,Hoffman Eric P.¹²,Gos Monika³,Kamińska Anna⁴,Kostera-Pruszczyk Anna⁴,Hausmanowa-Petrusewicz Irena⁵,Hu Ying⁶,Zou Yaqun⁶,Bönnemann Carsten G.⁶,JȨdrzejowska Maria⁵⁷

Affiliation:

1. Research Center for Genetic Medicine, Children's National Medical Center; Washington DC USA

2. Department of Integrative Systems Biology; The George Washington University School of Medicine and Health Sciences; Washington DC USA

3. Department of Medical Genetics; Institute of Mother and Child; Warsaw Poland

4. Department of Neurology; Medical University of Warsaw; Warsaw Poland

5. Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences; Warsaw Poland

6. National Institute of Neurological Disorders and Stroke/NIH, Porter Neuroscience Research Center; Bethesda Maryland USA

7. Department of Medical Genetics; The Children's Memorial Health Institute; Warsaw Poland

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

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3. Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy;Hicks;Hum Mol Genet,2014

4. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice;Zou;Hum Mol Genet,2014

5. MutationTaster2: mutation prediction for the deep-sequencing age;Schwarz;Nat Methods,2014

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3. Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2;Molecular Biology Reports;2023-07-17

4. Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers‐Danlos syndrome;American Journal of Medical Genetics Part A;2023-06-23

5. Collagen XII mediated cellular and extracellular mechanisms in development, regeneration, and disease;Frontiers in Cell and Developmental Biology;2023-03-02