Publications by authors named "Pascale Marcorelle"
Background: Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in or , genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of this study was to further define the phenotypic spectrum of NMDAR-related MCDs.
Methods: We report the clinical, radiological and molecular features of 7 new patients and review data on 18 previously reported individuals with NMDAR-related MCDs.
Article Synopsis
- Congenital nemaline myopathies are rare muscle disorders marked by weakness and rod-like inclusions in muscle fibers, often leading to serious complications.
- The study utilized next-generation sequencing to identify pathogenic variants in the troponin T gene in three patients, all of whom exhibited similar severe symptoms like muscle hypotonia and progressive respiratory failure.
- Genetic analysis revealed various mutations resulting in the complete absence of the troponin T protein, supporting the idea that these recessive mutations lead to a consistent clinical phenotype among affected individuals.
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected males die in the early postnatal period, whereas female carriers are believed to be usually asymptomatic. Nevertheless, several affected females have been reported.
View Article and Find Full Text PDFRare lethal disease gene identification remains a challenging issue, but it is amenable to new techniques in high-throughput sequencing (HTS). Cerebral proliferative glomeruloid vasculopathy (PGV), or Fowler syndrome, is a severe autosomal recessive disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels leading to hydranencephaly. In three multiplex consanguineous families, genome-wide SNP analysis identified a locus of 14 Mb on chromosome 14.
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