A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4
Argente-Escrig, Herminia, Sánchez-Monteagudo, Ana, Frasquet, Marina, Millet-Sancho, Elvira, Martínez-Rubio, Maria Dolores, Pitarch, Inmaculada, Tomás, Miguel, Espinós, Carmen, Lupo, Vincenzo, Sevilla, Teresa
Published in Journal of the neurological sciences (15.07.2019)
Published in Journal of the neurological sciences (15.07.2019)
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Journal Article
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
Lupo, Vincenzo, Frasquet, Marina, Sánchez-Monteagudo, Ana, Pelayo-Negro, Ana Lara, García-Sobrino, Tania, Sedano, María José, Pardo, Julio, Misiego, Mercedes, García-García, Jorge, Sobrido, María Jesús, Martínez-Rubio, María Dolores, Chumillas, María José, Vílchez, Juan Jesús, Vázquez-Costa, Juan Francisco, Espinós, Carmen, Sevilla, Teresa
Published in Journal of medical genetics (01.12.2018)
Published in Journal of medical genetics (01.12.2018)
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Journal Article