ArticleNeurology. Genetics2024
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent
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Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 10 citations in OpenAlex.
- Loss of adenylosuccinate synthetase 1 in mice recapitulates features of ADSS1 myopathy.Human molecular genetics · 2026Article
- Consistent MRI pattern in ADSS1 myopathy with variable clinical presentations: A Korean cohort study.PloS one · 2026Article
- Adenylosuccinate synthetase deficiency and purine nucleotide cycle disruption impair neuromuscular function in Caenorhabditis elegans.Molecular genetics and metabolism · 2025Article
- Vulnerable Nucleotide Pools and Genomic Instability in Yeast Strains with Deletion of theInternational journal of molecular sciences · 2025Article
- Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy - meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America.Orphanet journal of rare diseases · 2024Article
- Variability in Disease Severity in Siblings With Homozygous Missense Variant of ADSSL1: Clinical Genetic Study and Review of Literatures.Molecular genetics & genomic medicine · 2024Review
- Metabolic Malfunction Mars Muscle Mitochondria.Neurology. Genetics · 2024Article
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Authors and funding
14 authors at 1 institution in 4 countries.
Dipti BaskarFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.ORCID https://orcid.org/0000-0002-8362-7380
Kiran PolavarapuFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.
Veeramani Preethish-KumarFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.
Seena VengalilFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.
Saraswati NashiFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.ORCID https://orcid.org/0000-0002-3184-2345
Ana TöpfFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.ORCID https://orcid.org/0000-0002-9227-2526
Aneesha ThomasFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.ORCID https://orcid.org/0000-0002-2867-8935
Sai Bhargava SankaFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.ORCID https://orcid.org/0000-0002-2854-9498
Deepak MenonFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.ORCID https://orcid.org/0000-0001-7360-417X
Kosha SrivastavaFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.ORCID https://orcid.org/0009-0001-7135-520X
Gautham ArunachalFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.
Bevinahalli N NandeeshFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.
Hanns LochmüllerFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.ORCID https://orcid.org/0000-0003-2324-8001
Atchayaram NaliniFrom the Department of Neurology (D.B., S.V., S.N., A. Thomas, S.B.S., D.M., K.S., A.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India; Children's Hospital of Eastern Ontario Research Institute (K.P., H.L.), Ottawa, Canada; Department of Neurology (V.P.-K.), Swansea University, Wales, United Kingdom; Brain and Mind Research Institute (H.L.), University of Ottawa; Division of Neurology (H.L.), Department of Medicine, The Ottawa Hospital, Canada; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Catalonia, Spain; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Germany; John Walton Muscular Dystrophy Research Centre (A. Töpf), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, United Kingdom; Department of Human Genetics (G.A.); and Department of Neuropathology (B.N.N.), National Institute of Mental Health and Neuro Sciences (NIMHANS), Bengaluru, India.
University of Ottawa · CA
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Distal myopathies are a heterogeneous group of primary muscle disorders with recessive or dominant inheritance. Methods: This was a retrospective study describing on Indian patients with genetically confirmed Results: All patients presented in their first or early second decade. All had onset in the first decade with a mean age at presentation being 17.7 ± 8.4 years (range: 3-27 years) and M:F ratio being 1:2. The mean disease duration was 9.3 ± 5.2 years ranging from 2 to 15 years. All patients were ambulant with wheelchair bound state in 1 patient due to respiratory involvement. The median serum creatine kinase (CK) level was 185.5 IU/L (range: 123-1564 IU/L). In addition to salient features of ptosis, cardiac involvement, bulbar weakness, and proximo-distal limb weakness with fatigue, there were significant seasonal fluctuations and decremental response to repetitive nerve stimulation, which have not been previously reported. Muscle histopathology was heterogenous with the presence of rimmed vacuoles, nemaline rods, intracellular lipid droplets along with chronic myopathic changes. Subtle response to pyridostigmine treatment was reported. While 5 of 6 patients had homozygous c.781G>A (p.Asp261Asn) variation, 1 had homozygous c.794G>A (p.Gly265Glu) in Discussion: This study expands the phenotypic spectrum and variability of
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