학술논문

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
Document Type
TEXT
Source
Subject
Medicine, Health
polyneuropathy
MFM
next generation sequencing
bcl-2 associated athanogene protein 3
protein aggregation
early respiratory failure
myopathy
muscular-dystrophy
skeletal myopathy
Medizin, Gesundheit
hearing impairment
early respiratory-failure
Language
English