Associated Papers
Two distinct phenotypes and a novel mutation in limb-girdle muscular dystrophy R7 telethonin-related patients from Thai neuromuscular center.
Paprad T et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
TCAP gene is not a common cause of cardiomyopathy in Iranian patients.
Alaei Z et al.
European Journal of Medical Research, 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
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
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.
Chamova T et al.
Neuromuscular Disorders : Nmd, 2018
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
Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.
Francis A et al.
Plos One, 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
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.
Olivé M et al.
Neuromuscular Disorders : Nmd, 2008