Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F Title Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration
[genome.jp]
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 606721 601047 Autosomal dominant CAV3 3p25.3 Rippling muscle disease 606072 601253 Autosomal dominant
[mnglabs.com]
[…] dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 FOLR1 11q13.4 Neurodegeneration
[institutobernabeu.com]