| Remarks |
Clinically affected; Symptoms onset at birth; Diagnosed within first year of life; Pregnancy unremarkable except for decreased fetal movement compared to mother's previous pregnancies; Symptoms include: respiratory insufficiency, motor delay, hypotonia, spinomuscular atrophy, transient tachypnea, anemia, oxygen dependent at night and while sick, perinatal hepatitis B exposure, diminished reflexes and absent gag reflex; Muscle biopsy showed skeletal muscle with features of centronuclear/myotubular myopathy (congenital) with increased central nuclei; congenital myotonic dystrophy; DNA sequencing panel revealed several variants of unknown significance, but the cause of the phenotype remains unknown: one dominantly inherited, heterozygous MYH7 mutation c.3337-3dup, three heterozygous mutations in the RYR1 gene c.1186_1187delinsTC, c.1001G>T (p.Gly334Val), and c.7487C>G (p.Pro2496Arg), as well as one heterozygous mutation in TTN gene c.9338G>A (p.Arg3113His); Treatments: tracheostomy, g-tube, ventilator, takes palivizumab 100 mg/ml injection every 30 days; See GM26131 for unaffected mother and GM26132 for unaffected father |