Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease
Acta Neuropathol
.
2020 Aug;140(2):231-235.
doi: 10.1007/s00401-020-02164-4.
Epub 2020 May 25.
Authors
Alessandra Ruggieri
1
2
,
Sergey Naumenko
3
,
Martin A Smith
4
5
6
7
,
Eliana Iannibelli
1
,
Flavia Blasevich
1
,
Cinzia Bragato
1
8
,
Sara Gibertini
1
,
Kirston Barton
7
,
Matthias Vorgerd
9
,
Katrin Marcus
10
,
Peixiang Wang
11
,
Lorenzo Maggi
1
,
Renato Mantegazza
1
,
James J Dowling
11
,
Rudolf A Kley
9
12
,
Marina Mora
1
,
Berge A Minassian
13
14
Affiliations
1
Department of Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Neurological Institute Carlo Besta, Milan, Italy.
2
Department of Molecular and Translation Medicine, Unit of Biology and Genetics, University of Brescia, Brescia, Italy.
3
Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON, Canada.
4
CHU Sainte-Justine Research Center, Montreal, QC, Canada.
5
Department of Biochemistry and Molecular Medicine, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada.
6
St-Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, Australia.
7
Garvan Institute for Medical Research, Darlinghurst, NSW, Australia.
8
PhD Program in Neuroscience, University of Milano-Bicocca, Monza, Italy.
9
Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.
10
Medizinisches Proteom-Center, Ruhr-University Bochum, Bochum, Germany.
11
Program in Genetics and Genome Biology, Hospital for Sick Children Research Institute, Toronto, ON, Canada.
12
Department of Neurology and Clinical Neurophysiology, St. Marien-Hospital Borken, Klinikum Westmuensterland, Borken, Germany.
13
Program in Genetics and Genome Biology, Hospital for Sick Children Research Institute, Toronto, ON, Canada.
[email protected]
.
14
Division of Neurology Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.
[email protected]
.
PMID:
32451610
PMCID:
PMC7360652
DOI:
10.1007/s00401-020-02164-4
No abstract available
MeSH terms
DNA Repeat Expansion
Female
Genetic Predisposition to Disease
Humans
Male
Myotonia Congenita / genetics*
Myotonia Congenita / pathology
Pedigree
Perilipin-4 / genetics*
Substances
PLIN4 protein, human
Perilipin-4