Congenital myopathies
RSS feedNew type of histological abnormalities in congenital nemaline myopathies
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]
