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

minicore myopathy with external ophthalmoplegia
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NAVJEEVAN NEONATAL AND CHILD CARE HOSPITAL SIRSA
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AADESH MEDICAL COLLEGE

Associate Professor HEAD OF UNIT PAEDIATRIC

Dr SN Medical College Jodhpur

MD PAEDS

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S M S Medical College & Hospital

Assistant Professor Ophthalmology

Dr R P Centre, AIIMS,

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Municipal Eye Hospital

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NBE Dwarka Office

DIPLOMATE.OF NATIONAL BOARD

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Kadi
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Divyajyot Eye Hospital.

M.S. (Ophthalmology ).

Government Medical College, Surat.

M.S (Ophthalmology ); D.O; M.B.B.S.

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kolkata
326 followers

CMRI

MD (Pediatrics), DNB (superspecialty) Neuro-medicine

Calcutta Medical Research Institute

DNB NEUROLOGY

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