Congenital myopathies
RSS feedA very rare form of core myopathy described
A study conducted in the Île-de-France region, involving researchers and clinicians from the Institute, describes the case of a patient who was diagnosed with congenital myopathy at the age of 20: the patient had suffered from diffuse muscle weakness since childhood, as well as central nervous system involvement, including learning difficulties and bilateral optic atrophy; … [Read more]
An update on the emerging concept of myotubulinopathy
Pathogenic variants in the TUBA4A gene underlie several phenotypes, some of which manifest as muscular symptoms. An international consortium of researchers has compiled the full set of clinical and genetic data from 31 patients with a mutation in this gene, drawn from 19 unrelated families: 17 of these families had a purely muscular phenotype, whilst … [Read more]
A rare form of myosinopathy now better understood
Researchers at the Institute of Myology* compiled clinical and genetic data from 13 patients who were found to have pathologic variants of the MYH2 gene: all presented with symptoms suggestive of slowly progressive myopathy, with variable age of onset, generally later than in cases already described in the literature; the patients were mainly from France, … [Read more]
A comprehensive study of a series of patients with SLONM
Italian clinicians analysed the clinical and biological data from a large series of cases of sporadic late-onset nemaline myopathy (SLONM): they added their own cases (5) to those in the literature, giving a total of 144 patients, 47% of whom had been initially diagnosed with SLONM with monoclonal gammopathy, which was absent in the other … [Read more]
Allele-specific gene silencing by RNA interference: a robust, safe and effective treatment for dominant hereditary diseases
Allele-specific gene silencing by RNA interference is a promising therapeutic approach for dominant hereditary diseases. This strategy is based on the targeted inhibition of messenger RNA (mRNA) from the mutated allele, while preserving the expression of the healthy allele. A team at the Institute’s Centre for Research in Myology* has developed this strategy for Schuurs-Hoeijmakers … [Read more]
Large deletions of the NEB gene in distal myopathy
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]
A broad genotype range for the TNNC2 gene
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]
First descriptions of cases of congenital myopathy linked to the dystonin gene
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]
FOXK2: a new gene for congenital myopathy with ptosis
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]
The importance of in-depth genetic analysis in cases of congenital myopathies linked to the RYR1 gene
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]
