title: [Clinical-genetic studies of infantile and juvenile proximal spinal muscular atrophy].
abstract: The present paper describes clinico-genetic characteristics of childhood and juvenile proximal spinal muscular atrophy (SMA). The investigation involved sporadic and familial cases out in 37 families. These cases showed typical or unusual course of SMA (e.g. the pedigrees suggesting an inheritance other than autosomal recessive, coexistence of SMA with other inherited diseases, unusual patterns in EMG and muscle biopsy). All cases mapped in genetical analysis to the chromosome 5q11.2-13.3 Spino-bulbar form of SMA was excluded in families in which only males were affected. The method of carriership identification is presented.
authors.affiliation: Kliniki Neurologicznej AM, Warszawie.
authors.forename: A
authors.initials: A
authors.lastname: Lusakowska
authors.forename: G
authors.initials: G
authors.lastname: Penchaszadech
authors.forename: B
authors.initials: B
authors.lastname: Badurska
authors.forename: J
authors.initials: J
authors.lastname: Borkowska
authors.forename: I
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002895:Chromosomes, Human, Pair 5; D004247:DNA / Q000032:analysis; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D012720:Severity of Illness Index
chemical_list: D004247:DNA
vernacular_title: Badania kliniczno-genetyczne dzieciecego i młodzieńczego ksobnego rdzeniowego zaniku mieśni.