𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations

✍ Scribed by Marinos C. Dalakas; Ayush Dagvadorj; Bertrand Goudeau; Kye-Yoon Park; Kazuyo Takeda; Monique Simon-Casteras; Olavo Vasconcelos; Nyamkhishig Sambuughin; Alexey Shatunov; James W. Nagle; Kumaraswamy Sivakumar; Patrick Vicart; Lev G. Goldfarb

Book ID
117669713
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
334 KB
Volume
13
Category
Article
ISSN
0960-8966

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Structural and functional analysis of a
Structural and functional analysis of a new desmin variant causing desmin-related myopathy
✍ Bertrand Goudeau; Ayush Dagvadorj; Fernando Rodrigues-Lima; Patrick NΓ©dellec; Mo πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 645 KB

Desmin-related myopathy is a familial or sporadic disease characterized by skeletal muscle weakness and cardiomyopathy as well as the presence of intracytoplasmic aggregates of desmin-reactive material in the muscle cells. Previously, two kinds of deletions and eight missense mutations have been ide

Conspicuous involvement of desmin tail m
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies
✍ Harald BΓ€r; Bertrand Goudeau; Sarah WΓ€lde; Monique Casteras-Simon; Norbert MΓΌcke πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 627 KB

Myofibrillar myopathy (MFM) encompasses a genetically heterogeneous group of human diseases caused by mutations in genes coding for structural proteins of muscle. Mutations in the intermediate filament (IF) protein desmin (DES), a major cytoskeletal component of myocytes, lead to severe forms of ''d