title: Autosomal recessive disease.
authors.forename: E
authors.initials: E
authors.lastname: Szwabowska-Orzeszko
authors.forename: S
authors.initials: S
authors.lastname: Jóźwiak
authors.forename: R
authors.initials: R
authors.lastname: Michałowicz
mesh_terms: D001284:Atrophy; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D009046:Motor Neurons / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D009410:Nerve Degeneration / Q000502:physiology; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics* / Q000473:pathology; D014057:Tomography, X-Ray Computed