Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Mutations in the torsinA-interacting protein 1 (TOR1AIP1) gene result in a severe muscular dystrophy with minimal literature in the pediatric population. We review a case of TOR1AIP1 gene mutation in a 16-year-old Caucasian female with a long history of muscle weakness. Extensive clinical workup was...

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Publicat a:Clin Imaging
Autors principals: Bhatia, Aashim, Mobley, Bret C., Cogan, Joy, Koziura, Mary E., Brokamp, Elly, Phillips, John, Newman, John, Moore, Steven A., Hamid, Rizwan
Format: Artigo
Idioma:Inglês
Publicat: 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6893088/
https://ncbi.nlm.nih.gov/pubmed/31299614
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clinimag.2019.06.010
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