title: Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient.
abstract: Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take into consideration this possibility in patients presenting with unusual complex phenotypes or with unexpected electrophysiological findings. Here, we report a Spanish 11-month-old patient with spinal muscular atrophy type 2 and Charcot-Marie-Tooth 1A.
authors.affiliation: Department of Genetics, Reproduction and Fetal Medicine Institute of Biomedicine of Seville (IBIS)University Hospital Virgen del Rocío/CSIC/University of Seville Seville Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Seville Spain.
authors.forename: Raquel M
authors.initials: RM
authors.lastname: Fernández
authors.affiliation: Department of Genetics, Reproduction and Fetal Medicine Institute of Biomedicine of Seville (IBIS)University Hospital Virgen del Rocío/CSIC/University of Seville Seville Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Seville Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Peciña
authors.affiliation: Department of Pediatrics University Hospital Virgen del Rocío Seville Spain.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Muñoz-Cabello
authors.affiliation: Department of Genetics, Reproduction and Fetal Medicine Institute of Biomedicine of Seville (IBIS)University Hospital Virgen del Rocío/CSIC/University of Seville Seville Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Seville Spain.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Antiñolo
authors.affiliation: Department of Genetics, Reproduction and Fetal Medicine Institute of Biomedicine of Seville (IBIS)University Hospital Virgen del Rocío/CSIC/University of Seville Seville Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Seville Spain.
authors.forename: Salud
authors.initials: S
authors.lastname: Borrego
keywords: Charcot‐Marie‐Tooth 1A; co‐segregation; double‐trouble cases; genetic analysis; spinal muscular atrophy