✦ LIBER ✦

Incomplete manifestations of myotonic dystrophy in a large kinship in labrador

✍ Scribed by Dr. William Pryse-Phillips; Gordon J. Johnson; Bodil Larsen

Publisher: John Wiley and Sons
Year: 1982
Tongue: English
Weight: 866 KB
Volume: 11
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410110606

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Proximal weakness as the primary manifes

Proximal weakness as the primary manifestation of myotonic dystrophy in older adults

✍ David Lacomis; Dr. David A. Chad; Thomas W. Smith 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 135 KB

Characterization of large CTG repeat exp

Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR

✍ Suzanne Cheng; Juana M. Barceló; Robert G. Korneluk 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 653 KB

Communicated Norman

Treatment of hypersomnolence in myotonic

Treatment of hypersomnolence in myotonic dystrophy with a CNS stimulant

✍ Dr. Frans G. A. van De Meché; Jan M. Boogaard; Bart van Den Berg 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 292 KB

Frequency of intergenerational contracti

Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy

✍ A. López de Munain; A.M. Cobo; A. Sáenz; A. Blanco; J.J. Poza; L. Martorell; J.F 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 337 KB 👁 2 views

Myotonic dystrophy (MD), an autosomal dominant multisystemic disorder with a high phenotypic variability, is the most common muscular dystrophy in adult life. The mutation underlying DM has been characterized as an expanded CTG trinucleotide repeat sequence in the 3 ' untranslated region of a protei

Instability of a premutation allele in h

Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1

✍ Claudia Abbruzzese; Sandro Costanzi Porrini; Bruno Mariani; Fiona K. Gould; John 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 356 KB 👁 2 views

Absence of chromosome fragility at 19q13

Absence of chromosome fragility at 19q13.3 in patients with myotonic dystrophy

✍ Jalal, S. M. ;Lindor, N. M. ;Michels, V. V. ;Buckley, D. D. ;Hoppe, D. A. ;Sarka 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 270 KB 👁 2 views