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A hitherto undescribed phenotype of early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficiency was initially identified in 2 siblings and in subsequent patients with a… Click to show full abstract
A hitherto undescribed phenotype of early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficiency was initially identified in 2 siblings and in subsequent patients with a similar constellation of findings. The goal of this study was to understand the genetic and molecular etiology of this condition.
Keywords:
hearing loss;
muscular dystrophy;
ovarian insufficiency
Journal Title: Annals of Neurology
Year Published: 2020
Link to full text (if available)
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Journal Title: Annals of Neurology
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!