✦ LIBER ✦

C.P.1.05 Congenital fibre type disproportion associated with de novo mutations in TPM3 and ACTA1 genes

✍ Scribed by N. Monnier; A. Labarre-Vila; M. Commare; P. Mezin; S. Drouhin; I. Marty; J. Lunardi

Book ID: 116793099
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 49 KB
Volume: 17
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2007.06.250

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations of tropomyosin 3 (TPM3) are co

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion

✍ Michael W. Lawlor; Elizabeth T. DeChene; Emily Roumm; Amelia S. Geggel; Behzad M 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 369 KB

Congenital fiber type disproportion (CFTD) is a rare congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings. Mutations of th

C.P.1.03 TPM3 is a recurrent cause of co

C.P.1.03 TPM3 is a recurrent cause of congenital fibre type disproportion and is associated with a consistent phenotype

✍ N. Clarke; H. Kolski; D. Dye; E. Lim; R. Smith; R. Patel; M. Fahey; N. Laing; K. 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 63 KB

P.9.9 A novel de novo mutation in ACTA1

P.9.9 A novel de novo mutation in ACTA1 causes a congenital myopathy with misleading type 1 fiber predominance and a peculiar MRI

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