Article
[Diagnostic progress in spinal muscular atrophy].
Przeglad lekarski - 1 Jan 2001
Gergont A, Kaciński M, Steczkowska-Klucznik M
Abstract excerpt
Progress of diagnostic methods in recognition of spinal muscular atrophy (SMA), the most common degenerative disease of the nervous system in children has been observed in the last years. It has been proved, that all types of SMA, phenotypically variable Werdnig-Hoffman and Kugelberg-Welander diseases are results of homozygous absence of the telomeric copy of SMN gene located on the long arm of chromosome 5; this...
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