Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.

Johnson K., De Ridder W., Töpf A., Bertoli M., Phillips L., De Jonghe P., Baets J., Deconinck T., Rakocevic Stojanovic V., Perić S., Durmus H., Jamal-Omidi S., Nafissi S., Mongini T., Łusakowska A., Busby M., Miller J., Norwood F., Hudson J., Barresi R., Lek M., MacArthur DG., Straub V.

DOI

10.1136/jnnp-2018-318288

Type

Journal article

Publication Date

2019-04-01T00:00:00+00:00

Volume

90

Pages

490 - 493

Total pages

3

Keywords

muscle disease, muscular dystrophy, myopathy, neuromuscular, Adult, Ethnicity, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Muscle, Skeletal, Muscular Diseases, Muscular Dystrophies, Limb-Girdle, Mutation, Transcription Factors, Tripartite Motif Proteins, Ubiquitin-Protein Ligases

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