ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
autosomal recessive centronuclear myopathy +
CANOMAD Syndrome
Cap Myopathy +
centronuclear myopathy +
centronuclear myopathy 1
centronuclear myopathy 2
centronuclear myopathy 4
centronuclear myopathy X-linked
chronic progressive external ophthalmoplegia +
Compton-North congenital myopathy
congenital fibrosis of the extraocular muscles +
congenital myopathy 10B
Congenital Myopathy 11
congenital myopathy 14
congenital myopathy 15
congenital myopathy 16
congenital myopathy 17
congenital myopathy 18
congenital myopathy 19
congenital myopathy 1A +
congenital myopathy 1B
A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. (DO)
congenital myopathy 20
congenital myopathy 21
congenital myopathy 22A
congenital myopathy 22B
congenital myopathy 2B
congenital myopathy 2C
congenital myopathy 4A +
congenital myopathy 5
congenital myopathy 6
congenital myopathy 8
congenital myopathy 9A
congenital myopathy 9B
Congenital Myopathy with Excess of Muscle Spindles