Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Clinical and molecular characterization of limb-girdle muscular dystrophy 2G/R7 in a large cohort of Brazilian patients.
Gaviraghi T et al.
Clinical Genetics, 2024
Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.
Lin F et al.
Orphanet Journal of Rare Diseases, 2023
Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.
Lorenzoni PJ et al.
Arquivos De Neuro-psiquiatria, 2023
TCAP gene is not a common cause of cardiomyopathy in Iranian patients.
Alaei Z et al.
European Journal of Medical Research, 2023
The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7.
Lv X et al.
Human Molecular Genetics, 2023
Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related.
Chen Z et al.
Journal of Neuromuscular Diseases, 2023
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center.
Huang K et al.
Neurogenetics, 2022
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Distal myopathy due to TCAP variants in four unrelated Chinese patients.
Lv X et al.
Neurogenetics, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Late onset distal myopathy: A new telethoninopathy.
Blanco-Palmero VA et al.
Neuromuscular Disorders : Nmd, 2019
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient.
Ikenberg E et al.
Neuromuscular Disorders : Nmd, 2017
Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions.
de Fuenmayor-Fernández de la Hoz CP et al.
Neuromuscular Disorders : Nmd, 2016
Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?
Cotta A et al.
Arquivos De Neuro-psiquiatria, 2014
Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).
Mahmood OA et al.
Molecular Medicine Reports, 2014
Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.
Francis A et al.
Plos One, 2014
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern.
Cotta A et al.
Bmc Clinical Pathology, 2014
Muscle phenotypic variability in limb girdle muscular dystrophy 2 G.
Paim JF et al.
Journal of Molecular Neuroscience : Mn, 2013
Telethonin-deficiency initially presenting as a congenital muscular dystrophy.
Ferreiro A et al.
Neuromuscular Disorders : Nmd, 2011
Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene.
Negrão L et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2010
Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.
Cardim N et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2005
Telethonin protein expression in neuromuscular disorders.
Vainzof M et al.
Biochimica Et Biophysica Acta, 2002
Identification of an Arg403Gln beta myosin heavy chain gene mutation in a Portuguese family with hypertrophic cardiomyopathy.
Gonçalves LM et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2000
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin.
Moreira ES et al.
Nature Genetics, 2000