ArticleAmerican journal of human genetics2002
myotilin Mutation found in second pedigree with LGMD1A.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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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Who cites it
19 citing papers in PubMed, 103 citations in OpenAlex.
- The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.International journal of molecular sciences · 2021Review
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to theCase reports in cardiology · 2020Article
- Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2018Article
- Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.Molecular neurobiology · 2016Article
- The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies.Journal of neuromuscular diseases · 2015Article
- Novel recessive myotilin mutation causes severe myofibrillar myopathy.Neurogenetics · 2014Article
- RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice.Molecular therapy. Nucleic acids · 2014Article
- Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.Journal of neurology · 2013Article
- RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.Current gene therapy · 2012Review
- A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).Journal of neurology · 2011Article
- From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.Skeletal muscle · 2011Article
- Myofibrillar myopathies.Neuromuscular disorders : NMD · 2011Review
- Protective action of tetramethylpyrazine phosphate against dilated cardiomyopathy in cTnT(R141W) transgenic mice.Acta pharmacologica Sinica · 2010Article
- Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?Journal of the neurological sciences · 2009Article
- Myofibrillar myopathies.Current opinion in neurology · 2008Review
- Distinct muscle imaging patterns in myofibrillar myopathies.Neurology · 2008Article
- Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice.Molecular and cellular biology · 2007Article
- [Limb girdle muscular dystrophies].Der Nervenarzt · 2004Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000]) is an autosomal dominant form of muscular dystrophy characterized by adult onset of proximal weakness progressing to distal muscle weakness. We have reported elsewhere a mutation in the myotilin gene in a large, North American family of German descent. Here, we report the mutation screening of an additional 86 families with a variety of neuromuscular pathologies. We have identified a new myotilin mutation in an Argentinian pedigree with LGMD1 that is predicted to result in the conversion of serine 55 to phenylalanine (S55F). This mutation has not been found in 392 control chromosomes and is located in the unique N-terminal domain of myotilin, only two residues from the T57I mutation reported elsewhere. Both T57I and S55F are located outside the alpha-actinin and gamma-filamin binding sites within myotilin. The identification of two independent pedigrees with the same disease, each bearing a different mutation in the same gene, has long been the gold standard for establishing a causal relationship between defects in a gene and the resultant disease. As a description of the second known pedigree with LGMD1A, this finding constitutes that gold standard of proof that mutations in the myotilin gene cause LGMD1A.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.