Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis

Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis

BackgroundBenefits and challenges resulting from advances in genetic diagnostics are two sides of the same coin. Facilitation of a correct and timely diagnosis is paralleled by challenges in interpretation of variants of unknown significance (VUS). Focusing on an individual VUS-re-classification pip...

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Bibliographic Details
Main Authors: Stefanie Meyer, Silke Kaulfuß, Sabrina Zechel, Karsten Kummer, Ali Seif Amir Hosseini, Marielle Sophie Ernst, Jens Schmidt, Silke Pauli, Jana Zschüntzsch
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Neurology
Subjects:
muscular dystrophy
LGMDR23
hereditary myopathy
merosin
next generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.893605/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.893605/full

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