title: [Genetic, histochemical and ultrastructural study of a family with peculiar clinical expression of spinal muscular atrophy. Importance of biopsy examination in the detection of heterozygotes].
abstract: A clinical, histologic and ultrastructural study of a woman suffering for a slight form of spinal muscular atrophy and his heterozygotic husband is reported. The woman is daughter of kindred and her brothers have variable clinical manifestation of the disease. Therefore the genetic theory of the "three allels" is emphasized. The presence of histochemical changes in the muscular biopsy of the husband proposes the problem of the existence of tests for the heterozygosis in this disease.
mesh_terms: D000328:Adult; D001706:Biopsy; D003241:Consanguinity; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology*; D009133:Muscular Atrophy / Q000235:genetics*; D010375:Pedigree; D013118:Spinal Cord Diseases / Q000235:genetics*; D013577:Syndrome
vernacular_title: Studio genetico, istochimico e ultrastrutturale di una famiglia con peculiare espressività clinica di atrofia muscolare spinale. Importanza dell'esame bioptico per la ricerca degli eterozigoti.