Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

Abstract Background Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to allow an accurate differential diagnosis based on the clinical signs o...

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Bibliographic Details
Main Authors: Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub
Format: Article
Language:English
Published: BMC 2017-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Myopathy
Limb girdle muscular dystrophy
Exome
Titinopathy
Collagen VI related dystrophy
Mosaicism
Online Access:http://link.springer.com/article/10.1186/s13023-017-0699-9

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http://link.springer.com/article/10.1186/s13023-017-0699-9

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