This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing identified recessive variants in PYROXD1 in nine probands from five families. Affected individuals presented in infancy or childhood with slowly progressive proximal and distal weakness, facial weakness, nasal speech, swallowing difficulties, and normal to moderately elevated creatine kinase. Distinctive histopathology showed abundant internalized nuclei, myofibrillar disorganization, desmin-positive inclusions, and thickened Z-bands. PYROXD1 is a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs ...
Congenital myopathy and muscular dystrophy are two groups of inherited muscle diseases characterised...
Des mutations récessives dans le gène PYROXD1 ont été récemment décrites chez des patients présentan...
The mitochondrial DNA A3243G mutation causes neuromuscular disease. To investigate the muscle-specif...
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and...
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and...
International audienceRecessive mutations in PYROXD1, encoding an oxidoreductase, were recently repo...
International audienceThe skeletal muscle ryanodine receptor is an essential component of the excita...
Congenital myopathies (CMs) are a heterogeneous group of inherited muscle disorders characterized by...
OBJECTIVE: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants ...
The congenital myopathies are a diverse group of inherited neuromuscular disorders that manifest as ...
Early-onset myopathies are genetically heterogeneous mendelian diseases. We have performed solo or t...
Recessive variants in the oxidoreductase PYROXD1 are reported to cause a myopathy in 22 affected ind...
Congenital myopathies are clinically and genetically heterogeneous diseases that typically present i...
Congenital myopathy and muscular dystrophy are two groups of inherited muscle diseases characterised...
Des mutations récessives dans le gène PYROXD1 ont été récemment décrites chez des patients présentan...
The mitochondrial DNA A3243G mutation causes neuromuscular disease. To investigate the muscle-specif...
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and...
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and...
International audienceRecessive mutations in PYROXD1, encoding an oxidoreductase, were recently repo...
International audienceThe skeletal muscle ryanodine receptor is an essential component of the excita...
Congenital myopathies (CMs) are a heterogeneous group of inherited muscle disorders characterized by...
OBJECTIVE: To describe adult-onset limb-girdle-type muscular dystrophy caused by biallelic variants ...
The congenital myopathies are a diverse group of inherited neuromuscular disorders that manifest as ...
Early-onset myopathies are genetically heterogeneous mendelian diseases. We have performed solo or t...
Recessive variants in the oxidoreductase PYROXD1 are reported to cause a myopathy in 22 affected ind...
Congenital myopathies are clinically and genetically heterogeneous diseases that typically present i...
Congenital myopathy and muscular dystrophy are two groups of inherited muscle diseases characterised...
Des mutations récessives dans le gène PYROXD1 ont été récemment décrites chez des patients présentan...
The mitochondrial DNA A3243G mutation causes neuromuscular disease. To investigate the muscle-specif...