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Case report
Next generation sequencing for rapid diagnosis of a rare early onset spastic paraplegia: A novel pathological variant in FA2H gene
Secuenciación de nueva generación para el diagnóstico rápido de una paraparesia espástica rara de aparición infantil: nueva variante patológica en el gen FA2H
M. Cristina González-Gonzáleza,
Corresponding author
cgonzalez@brsalud.es

Corresponding author.
, Miriam Gutierreza, Cristina Castaño de la Motab, Nuria Muñoz Jareñob, Severino Gonzalezc, Fernando Cavaa
a H.I. Sofia, Dpto. Genetica, Avda de Europa, 34, 28702 Sebastián de los Reyes, Madrid, Spain
b H.I. Leonor, Dpto. Pediatría, calle Gran via del este 84, 28031 Madrid, Spain
c ICM Lab, Avda de la Coruña, 500, 27003 Lugo, Spain
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ISSN: 18884008
Original language: English
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