𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Actin mutations are one cause of congenital fibre type disproportion

✍ Scribed by Nigel G. Laing; Nigel F. Clarke; Danielle E. Dye; Khema Liyanage; Kendall R. Walker; Yasuaki Kobayashi; Shuichi Shimakawa; Tohru Hagiwara; Robert Ouvrier; John C. Sparrow; Ichizo Nishino; Kathryn N. North; Ikuya Nonaka


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
575 KB
Volume
56
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Recessive mutations in RYR1 are a common
✍ Nigel F. Clarke; Leigh B. Waddell; Sandra T. Cooper; Margaret Perry; Robert L.L. πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 531 KB

The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate whether mutations in RYR1 are a cause of CFTD we sequenced RYR1 in seven CFTD families in whom the other known causes o

Mutations of tropomyosin 3 (TPM3) are co
✍ Michael W. Lawlor; Elizabeth T. DeChene; Emily Roumm; Amelia S. Geggel; Behzad M πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 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

Mutations in LCA5 are an uncommon cause
✍ Sylvie Gerber; Sylvain Hanein; Isabelle Perrault; Nathalie Delphin; Nisrine Abou πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 74 KB

Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophy responsible for blindness or severe visual impairment at birth or within the first months of life. Up to date, ten LCA genes have been identified. Three of them account for ca. 43% of families and ar

Null mutations causing depletion of the
✍ Nicole Monnier; Isabelle Marty; Julien Faure; Claudia Castiglioni; Claude Desnue πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 325 KB

## Communicated by Claude Fe Β΄rec Mutations of the ryanodine receptor cause dominant and recessive forms of congenital myopathies with cores. Quantitative defects of RYR1 have been reported in families presenting with recessive forms of the disease and epigenic regulation has been recently proposed