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FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B

Known as: FSHD2, DIGENIC, MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1B, MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 2 
National Institutes of Health

Related topics

Related topics

4 relations

Broader (1)

Muscular Dystrophy, Facioscapulohumeral
SMCHD1, 5-BP DEL, NT1302SMCHD1, IVS29DS, G-A, +1SMCHD1, PRO690SER

Papers overview

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2018
2018
About the facioscapuloperoneal muscular dystrophy in the famous K. kindred first described by Oransky (1927), with further re-examination by Davidenkov and Kulkova (1938), Kazakov (1969) and Kazakov…
Additional study of the K. kindred examined previously by Oransky in 1927, and further by Davidenkov and Kulkova in 1938 and then… 
2016
2016
Corrigendum to “Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations” [Neuromuscular Disorders 26/4–5 (2016…
2016
2016
Facioscapulohumeral muscular dystrophy 2 (FSHD2) is a genetic muscular disorder characterized by DNA hypomethylation on the 4q-subtelomeric macrosatellite repeat array, D4Z4. FSHD2 is caused by…
2014
2014
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing
Facioscapulohumeral muscular dystrophy (FSHD) is linked to chromatin relaxation due to epigenetic changes at the 4q35 D4Z4… 
2013
2013
Diagnose stellen bij FSHD2
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