ArticleNeuromuscular disorders : NMD2008
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.
Article in Neuromuscular disorders : NMD, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 53 citations in OpenAlex.
- TCAP gene is not a common cause of cardiomyopathy in Iranian patients.European journal of medical research · 2023Article
- Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center.Neurogenetics · 2022Article
- Identification of key genes affecting porcine fat deposition based on co-expression network analysis of weighted genes.Journal of animal science and biotechnology · 2021Article
- The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.International journal of molecular sciences · 2021Review
- Distal myopathy due to TCAP variants in four unrelated Chinese patients.Neurogenetics · 2021Article
- The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies.Journal of neuromuscular diseases · 2015Article
- Mechano-signaling in heart failure.Pflugers Archiv : European journal of physiology · 2014Review
- Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.BMC clinical pathology · 2014Article
- Article
- Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.Journal of molecular neuroscience : MN · 2013Article
- Z-disc transcriptional coupling, sarcomeroptosis and mechanoptosis [corrected].Cell biochemistry and biophysics · 2013Article
- Transcriptional abnormalities of hamstring muscle contractures in children with cerebral palsy.PloS one · 2012Article
- A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.Neuromuscular disorders : NMD · 2011Article
- Telethonin deficiency is associated with maladaptation to biomechanical stress in the mammalian heart.Circulation research · 2011Article
- From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Skeletal muscle · 2011Article
- The sarcomeric Z-disc and Z-discopathies.Journal of biomedicine & biotechnology · 2011Review
- Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2010Article
- Functional muscle analysis of the Tcap knockout mouse.Human molecular genetics · 2010Article
- Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.Human molecular genetics · 2009Article
- Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human disease.Cell motility and the cytoskeleton · 2009Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
A 27-year-old woman of Moldavian origin presented at the age of 15 with progressive proximal limb weakness and painful cramps in her calf muscles. Clinical examination revealed prominent muscle weakness in proximal muscles of the lower extremities and distal anterior compartment of legs, and mild weakness in shoulder girdle muscles. In addition, she had marked calf hypertrophy, muscle atrophy involving the anterior and posterior compartments of the thighs, and the distal anterior compartment of legs, as well as mild scapular winging and hyperlordosis. A muscle biopsy taken from the biceps brachii showed mild dystrophic changes, absent vacuoles, and abundant lobulated fibers. Immunofluorescence and Western blot assays demonstrated complete telethonin deficiency. Molecular analysis revealed a homozygous Trp25X mutation in the telethonin (TCAP) gene resulting in termination of transcription at an early point. Four families from Brazil with telethonin deficiency have previously been reported and classified as LGMD2G, but the actual frequency of this disease is unknown. With this current identification of a case outside the Brazilian population, telethonin mutation-associated LGMD should be considered worldwide.
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