𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy

✍ Scribed by Joshua T. Mendell; Shirly G. Panicker; Chang-Yong Tsao; Bo Feng; Zarife Sahenk; George A. Marzluf; Jerry R. Mendell


Book ID
101259488
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
282 KB
Volume
12
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis


laminin 2-chain gene (


πŸ“œ SIMILAR VOLUMES


Intrafamilial phenotypic variation in li
✍ A. Takano; C.G. BΓΆnnemann; H. Honda; M. Sakai; C.A. Feener; L.M. Kunkel; G. Sobu πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 864 KB

Two Japanese-Brazilian siblings with type 2C limb girdle muscular dystrophy showed a maternal 521-T deletion in exon 6 and a larger paternal deletion of exon 6 in the β₯-sarcoglycan gene. One sib was ambulant at 29 years of age, whereas the other sib was confined to a wheelchair at the age of 12. Sar