Congenital myopathies

Two major London paediatric neuromuscular centres carried out a retrospective study of 69 children with RYR1-related myopathy followed up between 1992 and 2019: 29 presented a dominant form of myopathy linked to RYR1, 31 a recessive form, six a de novo dominant form and three a form of transmission as yet undefined; Onset ranged from … [Read more]

A Danish team presents the case of a 59-year-old woman with atypical sporadic late-onset nemaline myopathy (SLONM): skin manifestations (redness and phlyctenes on the extremities and trunk) preceded the onset of neuromuscular symptoms by one year; the residual thymus showed follicular hyperplasia; Muscle biopsy revealed rods and abnormal mitochondria; the electromyogram revealed not only myopathic … [Read more]

French clinicians report, in five patients with congenital rod myopathy (also called nemaline), histological lesions in the form of dense protein masses: none of the patients were related, in three of them pathological variants of the NEB gene encoding nebulin were identified, in another, the TPM2 gene encoding tropomyosin-2 was involved, the clinical phenotype was … [Read more]