ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2010
Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene.
Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Muscle MRI patterns for limb girdle muscle dystrophies: systematic review.Journal of neurology · 2023Pooled it
- Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.Orphanet journal of rare diseases · 2023Article
- Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center.Neurogenetics · 2022Article
- Distal myopathy due to TCAP variants in four unrelated Chinese patients.Neurogenetics · 2021Article
- Time of Day and Muscle Strength: A Circadian Output?Physiology (Bethesda, Md.) · 2021Article
- 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
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Limb-girdle muscular dystrophy 2G is caused by mutations in the telethonin (TCAP) gene in chromosome 17q11-12. This rare form of hereditary muscle disease was originally described in Brazilian patients and was recently identified in Chinese and Moldavian patients. We present the first Portuguese patient with a limb-girdle muscular dystrophy caused by a mutation in the TCAP gene. A Caucasian male, 50 years old, presented in his early twenties, slowly progressive weakness in upper and lower limbs. Neurologic examination revealed severe atrophy and weakness in the muscles of the arms, thighs and legs' anterior compartment. Muscle MRI of the thighs and legs revealed severe atrophy of all the muscles of the thighs and legs' anterolateral compartment, in a symmetrical way. Molecular studies identified the homozygous c.157C > T (p.Gln53X) mutation in exon 2 of the TCAP gene, already described in Brazilian patients.
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Identifiers
22029105PMC2954583W2169735205What OpenQuestion holds
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