Climb 6-hills in a coat with Popeye, you shall find facioscapulohumeral dystrophy - Going from phenotype to genotype
Facioscapulohumeral dystrophy (FSHD), is a rare muscle disease in clinical practice. Identifying the condition with its classic clinical signs helps in better managing patients early. This report is to shed light upon this condition and signs associated with it. We also try to elaborate a few geneti...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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KIMS Foundation and Research Center
2019-10-01
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| Series: | Journal of Medical and Scientific Research |
| Subjects: | |
| Online Access: | http://jmsronline.com/article.aspx?ID=Climb-6-hills-in-a-coat-with-Popeye-facioscapulohumeral-dystrophy-phenotype-to-genotype |
| _version_ | 1818752211090407424 |
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| author | Suhas M Sanket Patil Shivani Nayak |
| author_facet | Suhas M Sanket Patil Shivani Nayak |
| author_sort | Suhas M |
| collection | DOAJ |
| description | Facioscapulohumeral dystrophy (FSHD), is a rare muscle disease in clinical practice. Identifying the condition with its classic clinical signs helps in better managing patients early. This report is to shed light upon this condition and signs associated with it. We also try to elaborate a few genetic aspects and their pathogenetic mechanisms in the review. |
| first_indexed | 2024-12-18T04:47:51Z |
| format | Article |
| id | doaj.art-68704d51fdfc4fc8af36055969a7867b |
| institution | Directory Open Access Journal |
| issn | 2321-1326 2394-112X |
| language | English |
| last_indexed | 2024-12-18T04:47:51Z |
| publishDate | 2019-10-01 |
| publisher | KIMS Foundation and Research Center |
| record_format | Article |
| series | Journal of Medical and Scientific Research |
| spelling | doaj.art-68704d51fdfc4fc8af36055969a7867b2022-12-21T21:20:31ZengKIMS Foundation and Research CenterJournal of Medical and Scientific Research2321-13262394-112X2019-10-017412012210.17727/JMSR.2019/7-21Climb 6-hills in a coat with Popeye, you shall find facioscapulohumeral dystrophy - Going from phenotype to genotypeSuhas M0Sanket Patil1Shivani Nayak2Department of Neurology, Bangalore Medical College and Research Institute, Krishna Rajendra Rd., Bengaluru-560002, Karnataka Department of Neurology, Bangalore Medical College and Research Institute, Krishna Rajendra Rd., Bengaluru-560002, Karnataka Fellow in Phaco-Refractive Surgery, Lions Super Speciality Eye Hospital, Bengaluru-560002, Karnataka Facioscapulohumeral dystrophy (FSHD), is a rare muscle disease in clinical practice. Identifying the condition with its classic clinical signs helps in better managing patients early. This report is to shed light upon this condition and signs associated with it. We also try to elaborate a few genetic aspects and their pathogenetic mechanisms in the review.http://jmsronline.com/article.aspx?ID=Climb-6-hills-in-a-coat-with-Popeye-facioscapulohumeral-dystrophy-phenotype-to-genotypepolyhill signpopeye signcoats diseasefacioscapulohumeral dystrophy |
| spellingShingle | Suhas M Sanket Patil Shivani Nayak Climb 6-hills in a coat with Popeye, you shall find facioscapulohumeral dystrophy - Going from phenotype to genotype Journal of Medical and Scientific Research polyhill sign popeye sign coats disease facioscapulohumeral dystrophy |
| title | Climb 6-hills in a coat with Popeye, you shall find facioscapulohumeral dystrophy - Going from phenotype to genotype |
| title_full | Climb 6-hills in a coat with Popeye, you shall find facioscapulohumeral dystrophy - Going from phenotype to genotype |
| title_fullStr | Climb 6-hills in a coat with Popeye, you shall find facioscapulohumeral dystrophy - Going from phenotype to genotype |
| title_full_unstemmed | Climb 6-hills in a coat with Popeye, you shall find facioscapulohumeral dystrophy - Going from phenotype to genotype |
| title_short | Climb 6-hills in a coat with Popeye, you shall find facioscapulohumeral dystrophy - Going from phenotype to genotype |
| title_sort | climb 6 hills in a coat with popeye you shall find facioscapulohumeral dystrophy going from phenotype to genotype |
| topic | polyhill sign popeye sign coats disease facioscapulohumeral dystrophy |
| url | http://jmsronline.com/article.aspx?ID=Climb-6-hills-in-a-coat-with-Popeye-facioscapulohumeral-dystrophy-phenotype-to-genotype |
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