Clinical and genetic features of patients with facial‐sparing facioscapulohumeral muscular dystrophy
Author:
Affiliation:
1. Department of Neurology and Institute of Neurology, First Affiliated Hospital Fujian Medical University Fuzhou China
2. Fujian Key Laboratory of Molecular Neurology Fuzhou China
Funder
National Natural Science Foundation of China
Natural Science Foundation of Fujian Province
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.13509
Reference21 articles.
1. Genetic counselling in facioscapulohumeral muscular dystrophy.
2. Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.
3. Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population
4. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
5. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
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