ArticleNeurology. Genetics2021
Out-of-Frame Mutations in
Open access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 31% of its field
What it found
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.Annals of clinical and translational neurology · 2024Article
- Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.Annals of clinical and translational neurology · 2024Article
- Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.Scientific reports · 2024Article
- Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.Frontiers in neurology · 2023Article
- Mutation update for the ACTN2 gene.Human mutation · 2022Review
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Authors and funding
15 authors at 1 institution in 4 countries.
Marco SavareseFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.ORCID 0000-0002-2591-244X
Anna ViholaFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.
Manu E JokelaFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.
Sanna Pauliina HuovinenFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.
Simonetta GereviniFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.
Annalaura TorellaFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.
Mridul JohariFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.ORCID 0000-0002-3549-558X
Marina ScarlatoFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.
Per Harald JonsonFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.ORCID 0000-0003-2423-359X
Maria Elena OnoreFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.
Peter HackmanFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.
Mathias GautelFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.
Vincenzo NigroFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.ORCID 0000-0002-3378-5006
Stefano Carlo PrevitaliFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.ORCID 0000-0003-2546-4357
Bjarne UddFolkhälsan Research Center (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Helsinki; Department of Medical Genetics (M. Savarese, A.V., M.J., P.H.J., P.H., B.U.), Medicum, University of Helsinki; Neuromuscular Research Center (A.V.), Department of Genetics, Fimlab Laboratories, Tampere; Division of Clinical Neurosciences (M.E.J.), Department of Neurology, Turku University and University Hospital; Neuromuscular Research Center (S.P.H.), Department of Pathology, Fimlab Laboratories, Tampere, Finland; Neuroradiology Unit (S.G.), ASST Papa Giovanni XXIII, Bergamo; Dipartimento di Medicina di Precisione (A.T., M.E.O., V.N.), Università degli Studi della Campania "Luigi Vanvitelli," Napoli; Telethon Institute of Genetics and Medicine (A.T., V.N.), Pozzuoli; Division of Neuroscience and U.O. Neurologia (M. Scarlato, S.C.P.), IRCCS Ospedale San Raffaele, Milano, Italy; Randall Centre for Cell and Molecular Biophysics (M.G.), King's College London BHF Centre of Research Excellence, United Kingdom; Department of Neurology (B.U.), Vaasa Central Hospital; and Neuromuscular Research Center (M.E.J., B.U.), Department of Neurology, Tampere University and University Hospital, Finland.
King's College London · GB
Funding
British Heart Foundation CH/08/001/25300
Abstract
BACKGROUND AND
objectivesTo clinically, genetically, and histopathologically characterize patients presenting with an unusual combination of distal myopathy and facial weakness, without involvement of upper limb or shoulder girdle muscles.
methodsTwo families with a novel form of actininopathy were identified. Patients had been followed up over 10 years. Their molecular genetic diagnosis was not clear after extensive investigations, including analysis of candidate genes and FSHD1-related D4Z4 repeats.
resultsPatients shared a similar clinical phenotype and a common pattern of muscle involvement. They presented with a very slowly progressive myopathy involving anterior lower leg and facial muscles. Muscle MRI finding showed complete fat replacement of anterolateral compartment muscles of the lower legs with variable involvement of soleus and gastrocnemius but sparing thigh muscles. Muscle biopsy showed internalized nuclei, myofibrillar disorganization, and rimmed vacuoles. High-throughput sequencing identified in each proband a heterozygous single nucleotide deletion (c.2558del and c.2567del) in the last exon of the DISCUSSION: Our findings indicate an unusual form of actininopathy with specific molecular and clinical features. Actininopathy should be considered in the differential diagnosis of distal myopathy combined with facial weakness.
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