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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.

SUBMITTER: Fernandez RM

PROVIDER: S-EPMC5018594 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient.

Fernández Raquel M RM Peciña Ana A Muñoz-Cabello Beatriz B Antiñolo Guillermo G Borrego Salud S

Clinical case reports 20160809 9

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. ...[more]

PMID: 27648268

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