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
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
Ophthalmic Surgeon
NBE Dwarka Office
DIPLOMATE.OF NATIONAL BOARD
Divyajyot Eye Hospital.
M.S. (Ophthalmology ).
Government Medical College, Surat.
M.S (Ophthalmology ); D.O; M.B.B.S.
CMRI
MD (Pediatrics), DNB (superspecialty) Neuro-medicine
Calcutta Medical Research Institute
DNB NEUROLOGY
Self Employed. Now Doing My Practice
Pediatric Consultant
MKCG MCH
MBBS and MD (pediatrics)
K S Hegde Medical Academy
M.B.B.S
Deen Dayal Upadhyay Hospital Hari Nagar Government of NCT Delhi
Secondary DNB Post Graduate Resident
International Council Of Ophthalmology
FICO