TY  - JOUR
AU  - Gonzalez-Gomez, Cristina
AU  - Del Campo Cano, Iván
AU  - Isabel Fernández-Avila, Ana
AU  - Paz Suárez-Mier, Maria
AU  - José Sagastizábal, María
AU  - Álvarez García-Rovés, Reyes
AU  - Méndez Fernández, Irene
AU  - Vilches, Silvia
AU  - Centeno Jiménez, Miriam
AU  - Siles Sánchez-Manjavacas, Ana
AU  - Usano Carrasco, Ana
AU  - Gonzalez-Vioque, Emiliano
AU  - Pablo Ochoa, Juan
AU  - Medrano, Constancio
AU  - González López, Esther
AU  - Garcia-Pavia, Pablo
AU  - Bermejo, Javier
AU  - Angeles Espinosa Castro, María
PY  - 2024
DO  - 10.1016/j.gene.2024.148437
UR  - http://hdl.handle.net/20.500.12105/19915
AB  - Biallelic variants in PPA2 gene cause a rare but lethal mitochondrial disorder. We describe the first four cases reported in Spain of PPA2 disease in two unrelated families. We have conducted a revision of the clinical history, necropsies, and...
LA  - eng
PB  - Elsevier
KW  - Alcohol Drinking
KW  - Death, Sudden, Cardiac
KW  - Mitochondrial Proteins
KW  - Inorganic Pyrophosphatase
KW  - Adolescent
KW  - Adult
KW  - Female
KW  - Humans
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Spain
TI  - Sudden cardiac death triggered by minimal alcohol consumption in the context of novel PPA2 mutations in 2 unrelated families.
TY  - journal article
ER  -