Data from: Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy

负责人：

关键词：

Facioscapulohumeral Muscular Dystrophy;Single muscle fiber;MRI;Neuromuscular Disease;Muscle disease

DOI：

doi:10.5061/dryad.04gq02h

摘要：

Objective: To investigate single muscle fiber contractile performance in muscle biopsies from patients with facioscapulohumeral muscular dystrophy

Data from: A homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy

负责人：

关键词：

DOI：

doi:10.5061/dryad.kwh70rz04

摘要：

Objective: Facioscapulohumeral muscular dystrophy (FSHD) is a heterogenetic disorder pred

Data from: Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD)

负责人：

关键词：

Outcome research;Facioscapulohumeral Muscular Dystrophy;Muscle disease;Quality of life;Neuromuscular Disease

DOI：

doi:10.5061/dryad.sh54526

摘要：

Objective: To determine the frequency and relative importance of the most meaningful symptoms in facioscapulohumeral muscular dystrophy (FSHD

Data from: Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of FSHD

负责人：

关键词：

Aurora;Homo Sapiens

DOI：

doi:10.5061/dryad.ck06k75

摘要：

DUX4 is a transcription factor whose misexpression in skeletal muscle causes facioscapulohumeral muscular dystrophy (FSHD). While DUX4