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...

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Bibliographic Details
Main Authors: Suhas M, Sanket Patil, Shivani Nayak
Format: Article
Language:English
Published: KIMS Foundation and Research Center 2019-10-01
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
Description
Summary: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.
ISSN:2321-1326
2394-112X