ArticleAmerican journal of medical genetics. Part A2017
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Congenital myasthenic syndromes.Orphanet journal of rare diseases · 2019Pooled it
- Presynaptic Congenital Myasthenic Syndromes.Muscle & nerve · 2026Review
- Exome sequencing of pashtun familial epilepsy in Pakistan reveals novel variants in LAMA5, KCNQ2 and GNAO1.Molecular biology reports · 2026Article
- Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.Case reports in genetics · 2026Article
- Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.International journal of molecular sciences · 2023Review
- Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.Journal of neuromuscular diseases · 2023Review
- Arc Regulates Transcription of Genes for Plasticity, Excitability and Alzheimer's Disease.Biomedicines · 2022Article
- A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder.Development (Cambridge, England) · 2020Article
- Pax7 as molecular switch regulating early and advanced stages of myogenic mouse ESC differentiation in teratomas.Stem cell research & therapy · 2020Article
- [Advances in the diagnosis and treatment of congenital myasthenic syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis.Frontiers in molecular neuroscience · 2020Review
- The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.Brain : a journal of neurology · 2019Article
- The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms.Frontiers in neurology · 2019Review
- Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.International journal of molecular sciences · 2018Article
- Congenital Myasthenic Syndromes in 2018.Current neurology and neuroscience reports · 2018Review
- The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.International journal of molecular sciences · 2018Review
- How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.Neuromolecular medicine · 2018Review
- A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.Annals of the New York Academy of Sciences · 2018Review
- Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.Frontiers in pediatrics · 2018Article
- Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.Journal of neuromuscular diseasesReview
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics. Magnetic resonance imaging of brain showed mild volume loss and periventricular T2 prolongation. Repetitive nerve stimulation revealed 50% decrement of compound muscle action potential amplitudes and 250% facilitation immediately after exercise, Endplate studies identified a profound reduction of the endplate potential quantal content and endplates with normal postsynaptic folding that were denuded or partially occupied by small nerve terminals. Expression studies revealed that p.Arg2659Trp caused decreased binding of laminin alpha-5 to SV2A and impaired laminin-521 cell-adhesion and cell projection support in primary neuronal cultures. In summary, this report describing severe neuromuscular transmission failure in a patient with a LAMA5 mutation expands the list of phenotypes associated with defects in genes encoding alpha-laminins.
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