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Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

Authors
  • Punetha, Jaya1, 2
  • Kesari, Akanchha1
  • Hoffman, Eric P1, 2
  • Gos, Monika3
  • Kamińska, Anna4
  • Kostera-Pruszczyk, Anna4
  • Hausmanowa-Petrusewicz, Irena5
  • Hu, Ying6
  • Zou, Yaqun6
  • Bönnemann, Carsten G6
  • JȨdrzejowska, Maria5, 7
  • 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. , (Poland)
  • 4 Department of Neurology, Medical University of Warsaw, Warsaw, Poland. , (Poland)
  • 5 Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland. , (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. , (Poland)
Type
Published Article
Journal
Muscle & Nerve
Publisher
Wiley (John Wiley & Sons)
Publication Date
Feb 01, 2017
Volume
55
Issue
2
Pages
277–281
Identifiers
DOI: 10.1002/mus.25232
PMID: 27348394
Source
Medline
Keywords
License
Unknown

Abstract

As our patient showed a more intermediate phenotype, this case expands the phenotypic spectrum for COL12A1 disorders. So far, COL12A1 disorders seem to cover much of the severity range of an Ehlers-Danlos/Bethlem-like myopathy overlap syndrome associated with both connective tissue abnormalities and muscle weakness. Muscle Nerve 55: 277-281, 2017.

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