Publications:

Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood.

Molecular Genetics And Metabolism Reports

Gropman, Andrea A; Uittenbogaard, Martine M; Brantner, Christine A CA; Wang, Yue Y; Wong, Lee-Jun LJ; Chiaramello, Anne A

Publication Date: 2020-09

Variant appearance in text: RYR1: A375A

PubMed Link: 32489883

Variant Present in the following documents:

• Main text

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