[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]

Autor:	M, Marolda, F S, Camporeale, M, Sparaco
Rok vydání:	1986
Předmět:	Adult Consanguinity Microscopy Electron Muscular Atrophy Biopsy Genetic Carrier Screening Muscles Humans Female Syndrome Spinal Cord Diseases Pedigree
Zdroj:	Rivista di neurologia. 56(3)
ISSN:	0035-6344
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::7f3f1ea6d7fb081d1ab627a56e173aa9 https://pubmed.ncbi.nlm.nih.gov/3787103 Zobrazit plný text záznamu