| Remarks |
Clinically affected; symptom onset before age 2; complications with delivery resulted in emergency C-section; at birth: hypotonic, external opthalmoplegia, bilateral cephalohematomas, pre-retinal hemorrhage in the left eye, feeding difficulties; at 6 months, noted absent tendon reflexes; motor functions achieved and maintained: holding head up, sitting, and walking without assistance; maximum motor function achieved: climbing stairs with handrail; on the RYR1 gene, donor is compound heterozygous for c.6721C>T(p.Arg2241*, pathogenic, paternally inherited), c.325C>T(p.Arg109Trp, likely pathogenic, maternally inherited), c.2122G>A(p.Asp708Asn, VUS, paternally inherited), and c.1453A>G(p.Met485Val, VUS, maternally inherited); family history: affected brother is GM23796 (lymph); unaffected family members: mother GM23798 (lymph), brother GM23799(lymph), and brother GM23797 (lymph); same subject lymphoblast is GM23800. |