Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease)

Autor: Madakshira, Manoj Gopal, Singla, Sonal, Gupta, Kirti, Zahan, Sayeeda, Paria, Pradip, Sahu, Jitendra Kumar

Publikováno v: Autopsy and Case Reports, Volume: 10, Issue: 2, Article number: e2020157, Published: 21 OCT 2020

Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder which encompasses a large group of genetic disorders characterized by slowly progressive degeneration of lower motor neurons. The mutation is seen in the SMN1 gene mapped on chromoso

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Autopsy of a child with Spinal muscular atrophy Type I (Werdnig-Hoffmann disease).

Autor: Madakshira MG; Post Graduate Institute of Medical Education and Research, Department of Histopathology. Chandigarh, India., Singla S; Post Graduate Institute of Medical Education and Research, Department of Pathology. Chandigarh, India., Gupta K; Post Graduate Institute of Medical Education and Research, Department of Histopathology. Chandigarh, India., Zahan S; Post Graduate Institute of Medical Education and Research, Department of Paediatrics. Chandigarh, India., Paria P; Post Graduate Institute of Medical Education and Research, Department of Paediatric Neurology. Chandigarh, India., Sahu JK; Post Graduate Institute of Medical Education and Research, Department of Paediatric Neurology. Chandigarh, India.

Publikováno v: Autopsy & case reports [Autops Case Rep] 2020 Apr 23; Vol. 10 (2), pp. e2020157. Date of Electronic Publication: 2020 Apr 23.