Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent <i>ADSSL1</i> Missense Variant-Reference-Cited by-同舟云学术

Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant

Published:2024-02 Issue:1 Volume:10 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Baskar Dipti¹^ORCID,Polavarapu Kiran¹,Preethish-Kumar Veeramani¹,Vengalil Seena¹,Nashi Saraswati¹^ORCID,Töpf Ana¹^ORCID,Thomas Aneesha¹^ORCID,Sanka Sai Bhargava¹^ORCID,Menon Deepak¹^ORCID,Srivastava Kosha¹^ORCID,Arunachal Gautham¹,Nandeesh Bevinahalli N.¹,Lochmüller Hanns¹^ORCID,Nalini Atchayaram¹

Affiliation:

1. From 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...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200122

Reference13 articles.

1. Adenylosuccinate synthase from Saccharomyces cerevisiae: homologous overexpression, purification and characterization of the recombinant protein

2. Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells

3. ADSSL1mutation relevant to autosomal recessive adolescent onset distal myopathy

4. ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features

5. The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

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1. Diagnosis of ADSSL1 Mutation-Induced Myopathy Through Electrophysiology and Genetic Tools;Journal of Electrodiagnosis and Neuromuscular Diseases;2024-08-31

2. Metabolic Malfunction Mars Muscle Mitochondria;Neurology Genetics;2024-02