Bertini, E., Gadisseux, JL., Palmieri, G., Ricci, E., Dicapua, M., Ferrière, G., & Lyon, G. (1989). Distal Infantile Spinal Muscular-atrophy Associated With Paralysis of the Diaphragm - a Variant of Infantile Spinal Muscular-atrophy. American Journal of Medical Genetics, 33(3), 328-335. https://doi.org/10.1002/ajmg.1320330309 (Original work published 1989)