Congenital myopathies

An international consortium of researchers, including two French scientists, studied possible correlations between genotype and phenotype in the context of myopathies linked to the NEB gene encoding nebulin: the triplicated part of the gene (exons 82 to 105) was studied in particular, 35 families were genotyped using different methods (NGS – whole exomes and genomes, … [Read more]

French researchers report a case of neonatal hypotonia that was found to be related to a pathological sequence variant in the TNNC2 gene encoding type C troponin: this gene was already known to cause early-onset myopathy; in a pair of siblings, the first died in the neonatal period and the second was the subject of … [Read more]

An international consortium of researchers including experts from the Institute of Myology reports the identification of a new form of early-onset congenital myopathy linked to the DST gene encoding dystonin: 19 patients from 14 unrelated families were identified following high-throughput sequencing studies in a context of diagnostic uncertainty. The clinical phenotype was quite severe from … [Read more]

Chinese researchers report for the first time mutations in the FOXK2 gene in five unrelated families: the clinical phenotype was that of an autosomal dominant congenital myopathy with early onset and the presence of very marked and often asymmetrical ptosis, five distinct pathological sequence variations were identified in the FOXK2 gene, this gene appears to … [Read more]

On the basis of two paediatric cases of myopathies linked to the RYR1 gene and a review of the literature, a Japanese team has highlighted the complexity of genetic counselling in these diseases, linked to their possible dual mode of inheritance, via an autosomal dominant or recessive mode. It is difficult to distinguish between these … [Read more]

Researchers at the Créteil Neuromuscular Disease Reference Centre report the rather exceptional case of a patient who developed myopathic symptoms during an immunological complication (graft-versus-host disease or GVHD) that occurred during treatment for leukaemia: the 49-year-old patient was being treated for acute leukaemia with chemotherapy and an allograft when she developed concomitant GVHD and myopathic … [Read more]

In a previous study published in 2024, Marie Morimoto et al. described nine cases of a new congenital myopathy linked to biallelic variants of the RFC4 gene, the Morimoto-Ruy-Malicdan syndrome. This syndrome is characterised by coordination problems, muscular and respiratory weakness, hearing impairment, weight loss and cerebellar atrophy. A new study of two brothers of … [Read more]

The team at the Créteil Neuromuscular Disease Reference Centre takes stock of congenital myopathies in the light of the recent exponential increase in knowledge in this field: in addition to the histological criteria which largely contributed to their original descriptions, genetics has enabled new entities to be discovered and their contours to be better defined, … [Read more]

Swiss researchers have undertaken preclinical work to pharmacologically treat one of the forms of myopathy linked to the ryanodine receptor type 1 (RYR1) : the model used for this research was a composite heterozygous mouse for two pathogenic variants of the RYR1 gene (p.Q1970fsX16 and p.A4329D) these mice were treated for 15 weeks with 0.05 … [Read more]