Unexpected, coexistence of anti-HMGCR and anti-melanoma differentiation-associated protein (anti-MDA5) were identified in 4 patients with characteristic rash and interstitial lung disease (ILD), but without myasthenia and elevated serum creatine kinase (CK) levels.
Mutations in <i>ganglioside-induced differentiation-associated protein 1</i> (<i>GDAP1</i>) cause several forms of CMT neuropathy, but the pathogenic mechanisms involved remain unclear.
The identified variants localize to genes including neuroblast differentiation-associated protein (<i>AHNAK</i>), previously associated with blood biomarkers in COPD, phospholipase C Beta 3 (<i>PLCB3</i>), shown to increase airway hyper-responsiveness, solute carrier family 22-A11 (<i>SLC22A11</i>), involved in amino acid metabolism and ion transport, and metallothionein-like protein 5 (<i>MTL5</i>), involved in nicotinate and nicotinamide metabolism.
Unexpected, coexistence of anti-HMGCR and anti-melanoma differentiation-associated protein (anti-MDA5) were identified in 4 patients with characteristic rash and interstitial lung disease (ILD), but without myasthenia and elevated serum creatine kinase (CK) levels.