Progressive external ophthalmoplegia
An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.
Disease Alternative Name
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AADESH MEDICAL COLLEGE
Associate Professor HEAD OF UNIT PAEDIATRIC
Dr SN Medical College Jodhpur
MD PAEDS
S M S Medical College & Hospital
Assistant Professor Ophthalmology
Dr R P Centre, AIIMS,
MD Ophthalmology
Municipal Eye Hospital
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NBE Dwarka Office
DIPLOMATE.OF NATIONAL BOARD
Divyajyot Eye Hospital.
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Government Medical College, Surat.
M.S (Ophthalmology ); D.O; M.B.B.S.
CMRI
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Calcutta Medical Research Institute
DNB NEUROLOGY
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