✦ LIBER ✦

Dominant congenital benign spinal muscular atrophy

✍ Scribed by Dr. C. J. M. Frijns; Dr. J. van Deutekom; Dr. R. R. Frants; Dr. F. G. I. Jennekens

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 482 KB
Volume: 17
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.880170210

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Spinal muscular atrophy variant with con

Spinal muscular atrophy variant with congenital fractures

✍ Kelly, Thaddeus E.; Amoroso, Kathy; Ferre, Merry; Blanco, John; Allinson, Patric 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 1 views

A single report of brothers born to firstcousin parents with a form of acute spinal muscular atrophy (SMA) and congenital fractures suggested that this combination represented a distinct form of autosomal recessive SMA. We describe a boy with hypotonia and congenital fractures whose sural nerve and

Autosomal dominant inheritance of heredi

Autosomal dominant inheritance of hereditary canine spinal muscular atrophy

✍ Dr. George H. Sack Jr; Linda C. Cork; Jeanette M. Morris; John W. Griffin; Donal 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 776 KB

Autosomal dominant late adult spinal mus

Autosomal dominant late adult spinal muscular atrophy, type finkel

✍ Richieri-Costa, A. ;Rogatko, A. ;Levisky, R. ;Finkel, N. ;Frota-Pessoa, O. ;Opit 📂 Article 📅 1981 🏛 John Wiley and Sons 🌐 English ⚖ 518 KB

## Abstract We describe clinical and genetic data from the study of two families with 80 members affected with the autosomal dominant, slowly progressive spinal muscular atrophy of late onset (average 48.8 years), first described by Finkel in 1962. Electromyography and muscle biopsy of a number of

Spinal Muscular Atrophy

✍ Maryam Oskoui; Petra Kaufmann 📂 Article 📅 2008 🏛 Springer-Verlag 🌐 English ⚖ 91 KB

Clinical and molecular genetic features

Clinical and molecular genetic features of congenital spinal muscular atrophy

✍ Koenraad Devriendt; Els Schollen; Jean-Jacques Cassiman; Jean-Pierre Fryns; Gert 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 938 KB

A rapidly progressive autosomal dominant

A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy

✍ P. H. P. Jansen; Dr E. M. G. Joosten; H. H. J. Jaspar; H. M. Vingerhoets 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 659 KB