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Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation
A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same symptoms. A physical examination and muscle imaging (CT and ultrasound) showed selective muscle involvement of the bilateral paraspinal, gluteu...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society of Internal Medicine
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635313/ https://www.ncbi.nlm.nih.gov/pubmed/28794355 http://dx.doi.org/10.2169/internalmedicine.6957-15 |