Homozygous UNC13A Variant in an Infant With Congenital Encephalopathy and Severe Neuromuscular Phenotype: A Case Report With Detailed Central Nervous System Neuropathologic Findings.

Mullins, Jordyn R; McFadden, Kathryn; Snow, Nicole; Oviedo, Angelica

Mullins, Jordyn R; McFadden, Kathryn; Snow, Nicole; Oviedo, Angelica.

Afiliação

Mullins JR; Pathology and Laboratory Medicine, Burrell College of Osteopathic Medicine, Las Cruces, USA.
McFadden K; Pathology and Laboratory Medicine, IWK Health Centre and Dalhousie Medical School, Halifax, CAN.
Snow N; Medical Genetics, IWK Health Centre and Dalhousie Medical School, Halifax, CAN.
Oviedo A; Pathology and Laboratory Medicine, Burrell College of Osteopathic Medicine, Las Cruces, USA.

Cureus ; 14(10): e30774, 2022 Oct.

Article em En | MEDLINE | ID: mdl-36447687

Palavras-chave

axonal spheroids; central nervous system development; cerebellar purkinje cell gliosis; neuromuscular junction; sub-cortical u-fibers; synapse; unc13a

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article