| Remarks |
Unaffected father; affected son is GM26127; spouse is GM26128. Affected son's combination of variants has been referred to in published literature as "Dusty Core Disease (DuCD)" (PMID: 30611313). DuCD is a new category of core myopathy; it was previously diagnosed as CCD, centronuclear myopathy, MmD, or core-rod myopathy. DuCD is caused by recessive RYR1 mutations and is the most common pathological consequence of biallelic mutations in RYR1 (PMID: 34627702). |