✦ LIBER ✦

A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: Expanding the spectrum of dominant ACTA1 mutations

✍ Scribed by L., Levesque; M.R., Del Bigio; S., Krawitz; A.A., Mhanni

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

P.9.9 A novel de novo mutation in ACTA1

✍ Castiglioni, C.; Cassandrini, D.; Fattori, F.; Bellacchio, E.; Alvarez, K.; D’Am 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 47 KB

Autosomal dominant nemaline myopathy wit

✍ David O. Hutchinson; Amanda Charlton; Nigel G. Laing; Biljana Ilkovski; Kathryn 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 398 KB

Mild phenotype of nemaline myopathy with

✍ H Jungbluth; C.A Sewry; S.C Brown; K.J Nowak; N.G Laing; C Wallgren-Pettersson; 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 893 KB