Author:
Behera Bijaylaxmi,Kumar Ajay
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Reference6 articles.
1. Bogari NM, Bogari FR, Rayes HH, Alqassimi NM, Balto HM, Dannoun A, et al. Molecular Genetic Diagnosis for a family with type 1 spinal muscular atrophy (SMA) via analysis of the survival motor neuron (SMN) gene. J Rare Dis Diagn Ther. 2015;1:21.
2. Gambardella A, Mazzei R, Toscano A, Annesi G, Pasqua A, Annesi F, et al. Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene. Ann Neurol. 1998;5:836–9
3. Pachter BR, Pearson J, Davidowitz J, Reuben R, Boal D, Carr R, et al. Congenital total external ophthalmoplegia associated with infantile spinal muscular atrophy. Fine structure of extraocular muscle. Invest Ophthalmol. 1976;15:320–4.
4. Dubrovsky A, Taratuto AL, Martino R. Distal spinal muscular atrophy and ophthalmoparesis: A case with selective type 2 fiber hypotrophy. Arch Neurol. 1981;38:594–6.
5. Maiti D, Bhattacharya M, Yadav S. Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: Unusual genetic mutation leading to unusual manifestation? J Postgraduate Med. 2012,58;4:294–5.