Article
[Neonatal muscular spinal atrophy: a case report].
La Pediatria medica e chirurgica : Medical and surgical pediatrics - 1 Jan 2000
Pavone P, Velardita M, Trigilia T, Luca G, Lucenti C, Romeo G, Falsaperla R
Abstract excerpt
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletions of the survival motor neuron (SMN) gene localised on chromosome 5q13. Pathological studies show decreased numbers of motorneurons in spinal cord. SMA was initially sub-classified clinically into three types base on age at onset and clinical course. SMA type 1, Werdnig-Hoffmann...
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