| Remarks |
Clinically affected; diagnosed with myopathy, congenital unknown type at 10 years old; stayed in NICU for 11 days for feeding issues; hypotonia; subclinical hypothyroidism; developmental delay; rolled at 8 months, sat at 9 months, walked independently at 14 months, first word at 15 months; failure to thrive; poor energy levels; very low muscle mass; cramping in hands and feet; pain in front of legs at night; episodes of dizziness and visual disturbances where images appear maginified brought on by activity and heat; non-diagnostic muscle biopsy showed no evidence of mitochondrial dysfunction; whole exome sequencing found 2 VOUS, one heterozygous variant in FLNC gene (c.2602A>G) which resulted in p.SER868GLY and one heterozygous de-novo variant in RYR1 (c.6584C>T) resulting in p.PRO2195LEU; variant finding in RYR1 could be diagnostic, but pathogenicity is unknown as of date of sampling; secondary pathogenic heterozygous variant in TYMP gene (c.929-6_929-3delCCGC) resulting in disruption of splicing recognition site, individual may be a carrier for mitochondrial DNA depletion syndrome 1 (MNGIE type) due to WES results and phenotype; physical therapy; Pediasure and Vitale; closed nasal reduction; tonsillectomy and adenoidectomy; mother (GM26125) and father (GM26126) also in repository. |