Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping

Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping

ObjectiveFacioscapulohumeral muscular dystrophy type 1 (FSHD1) is one of the most common forms of autosomal-dominant muscular dystrophies characterized by variable disease penetrance due to shortened D4Z4 repeat units on 4q35. The molecular diagnosis of FSHD1 is usually made by Southern blotting, wh...

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Bibliographic Details
Main Authors: Jieni Jiang, Xiaotang Cai, Haibo Qu, Qiang Yao, Tiantian He, Mei Yang, Hui Zhou, Xuemei Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-02-01
Series:Frontiers in Neurology
Subjects:
facioscapulohumeral muscular dystrophy 1
optical genome mapping
sibling patient
low-level mosaicism
germline mosaicism
disease penetrance
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2024.1258831/full

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https://www.frontiersin.org/articles/10.3389/fneur.2024.1258831/full

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