article_metadata: Jieni Jiang Xiaotang Cai Haibo Qu Qiang Yao Tiantian He Mei Yang Hui Zhou Xuemei Zhang
article_metadata: 10.3389/fneur.2024.1258831
article_metadata: Front Neurol
article_metadata: 2024 Feb 1:15:1258831.
article_metadata: disease penetrance facioscapulohumeral muscular dystrophy 1 germline mosaicism low-level mosaicism methylation analysis molecular diagnosis optical genome mapping sibling patient
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38361638/
article_metadata: Case Reports
article_metadata: PMC10867183
article_metadata: 38361638
article_metadata: Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping
article_metadata: 2024