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Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression

OBJECTIVE: We report a second family with autosomal dominant transportinopathy presenting with congenital or early-onset myopathy and slow progression, causing proximal and less pronounced distal muscle weakness. METHODS: Patients had clinical examinations, muscle MRI, EMG, and muscle biopsy studies...

詳細記述

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書誌詳細
出版年:Neurol Genet
主要な著者: Vihola, Anna, Palmio, Johanna, Danielsson, Olof, Penttilä, Sini, Louiselle, Daniel, Pittman, Sara, Weihl, Conrad, Udd, Bjarne
フォーマット: Artigo
言語:Inglês
出版事項: Wolters Kluwer 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6515942/
https://ncbi.nlm.nih.gov/pubmed/31192305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000337
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