𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling

✍ Scribed by Maria Antonietta Melis; Milena Cau; Rita Congiu; Rosalha Puddu; Francesco Muntoni; Antonio Cao

Book ID
115091362
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
284 KB
Volume
43
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Germinal mosaicism from grand-paternal o
Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy
✍ Mireille Claustres; Paule Kjellberg; Marie Desgeorges; HΓ©lΓ¨ne Bellet; Jacques De πŸ“‚ Article πŸ“… 1990 πŸ› Springer 🌐 English βš– 216 KB

We have identified a Duchenne muscular dystrophy (DMD) pedigree with an unexpected pattern of inheritance. Using marker restriction fragment length polymorphisms detected by probes that lie within and outside the DMD gene, we could demonstrate that the maternal grandfather has transmitted two distin

Duchenne muscular dystrophy and idiopath
Duchenne muscular dystrophy and idiopathic hyperCKemia in a family causing confusion in genetic counselling
✍ Bushby, Katharine; Goodship, Judith; Haggerty, Daisy; Heald, Andrew; Walls, Timo πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 136 KB πŸ‘ 2 views

We read with interest the report of Frydman et al. [1995] who described a child with DMD whose father had idiopathic hyperCKemia. We have been following another family in which both DMD and presumed idiopathic hyperCKemia are seen, in which for several years there was confusion in the genetic counse