Cargando…
Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis
Azerbaijani 28-year-old female showed weakness (MRC (Medical Research Council Scale for Muscle Strength) grade 4 in the proximal part of the upper and MRC grade 2–3 in the lower extremities), difficulty in stair lifting, positive symptom of Hoover’s rising, «waddling gait», decline deep reflexes sym...
Autores principales: | Marchuk, Margarita, Dovbonos, Tetiana, Makukh, Halyna, Semeryak, Orest, Sharhorodska, Yevheniya |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391900/ https://www.ncbi.nlm.nih.gov/pubmed/34439639 http://dx.doi.org/10.3390/brainsci11081020 |
Ejemplares similares
-
Novel TRIM32 mutation in sarcotubular myopathy
por: PANICUCCI, CHIARA, et al.
Publicado: (2019) -
A novel homozygous exon2 deletion of TRIM32 gene in a Chinese patient with sarcotubular myopathy: A case report and literature review
por: Wei, Xiao-Jing, et al.
Publicado: (2021) -
The Accumulation of Calcium Ions by Sarcotubular Vesicles
por: Carsten, Mary E., et al.
Publicado: (1964) -
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
por: Johnson, Katherine, et al.
Publicado: (2019) -
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy
por: Servián-Morilla, E., et al.
Publicado: (2019)