Dominant collagen XII mutations cause a distal myopathy

To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1.

[1]  A. Destrée,et al.  Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix , 2019, Genetics in Medicine.

[2]  S. Solomon,et al.  Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis , 2018, The New England journal of medicine.

[3]  J. Vissing,et al.  Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts , 2018, Muscle & nerve.

[4]  C. Bönnemann,et al.  Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects , 2017, Muscle & nerve.

[5]  M. Paulsson,et al.  COMP-assisted collagen secretion – a novel intracellular function required for fibrosis , 2016, Journal of Cell Science.

[6]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[7]  Yuya Kobayashi,et al.  A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and 77 78 79 80 81 82 Ovarian Cancer Genes in More Than 1000 Patients , 2015 .

[8]  C. Bönnemann,et al.  Next-generation sequencing still needs our generation's clinicians , 2015, Neurology: Genetics.

[9]  K. Fischbeck,et al.  Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies , 2015, Neuromuscular Disorders.

[10]  C. Bönnemann,et al.  Molecules in Focus: Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils , 2014 .

[11]  K. Bushby,et al.  Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. , 2014, Human molecular genetics.

[12]  M. Devoto,et al.  Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. , 2014, Human molecular genetics.

[13]  E. Bertini,et al.  Natural history of pulmonary function in collagen VI-related myopathies. , 2013, Brain : a journal of neurology.

[14]  I. V. van Rooij,et al.  Neuromuscular involvement in various types of Ehlers–Danlos syndrome , 2009, Annals of neurology.

[15]  Matthias Chiquet,et al.  Collagen XII Interacts with Avian Tenascin-X through Its NC3 Domain* , 2006, Journal of Biological Chemistry.

[16]  T. Tuschl,et al.  On the art of identifying effective and specific siRNAs , 2006, Nature Methods.

[17]  F. Hanefeld,et al.  Muscle ultrasound in Bethlem myopathy. , 2003, Neuropediatrics.

[18]  L. Lagae,et al.  Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. , 2000, American journal of human genetics.

[19]  S Leeman,et al.  Ultrasound imaging in the diagnosis of muscle disease. , 1982, The Journal of pediatrics.

[20]  J. Peña,et al.  Experimental induction of ring fibers in regenerating skeletal muscle. , 2001, Pathology, research and practice.