Literature citations
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak K.J.; Wattanasirichaigoon D.; Goebel H.H.; Wilce M.; Pelin K.; Donner K.; Jacob R.L.; Hubner C.; Oexle K.; Anderson J.R.; Verity C.M.; North K.N.;
Nat. Genet. 23:208-212(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS NEM3 TYR-42; PRO-96; SER-117; VAL-134; ASP-184; CYS-185; HIS-258; VAL-261; LEU-265; LYS-282; GLY-288 AND PHE-372; VARIANTS MPCETM ARG-17 AND LEU-165;
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
Jungbluth H.; Sewry C.A.; Brown S.C.; Nowak K.J.; Laing N.G.; Wallgren-Pettersson C.; Pelin K.; Manzur A.Y.; Mercuri E.; Dubowitz V.; Muntoni F.;
Neuromuscul. Disord. 11:35-40(2001)
Cited for: VARIANTS NEM3 VAL-134 AND ARG-271;
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