Late-onset limb-girdle myopathy with oculobulbar signs and rimmed vacuoles associated with a novel Pompe disease mutation

Subjects

Subjects :

Pathology
medicine.medical_specialty
Neurology
Disease mutation
business.industry
Pediatrics, Perinatology and Child Health
medicine
Rimmed vacuoles
Late onset
Limb-girdle myopathy
Neurology (clinical)
business
Genetics (clinical)

Details

ISSN :

09608966

Volume :

27

Database :

OpenAIRE

Journal :

Neuromuscular Disorders

Accession number :

edsair.doi...........4388713873faa462918feb1cb97f05b3

Full Text :

https://doi.org/10.1016/j.nmd.2017.06.256