✦ LIBER ✦

D.P.3.12 Autosomal recessive Ala93Thr mutation of caveolin-3 gene: A new family

✍ Scribed by F. Magri; C. Lamperti; D. Ronchi; E. Fassone; N. Grimoldi; M. Moggio; N. Bresolin; G.P. Comi

Book ID: 116793569
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 46 KB
Volume: 18
Category: Article
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2008.06.154

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

An autosomal recessive CMT family with a

An autosomal recessive CMT family with a new mutation in the NDRG1 gene

✍ Goksungur, M.T.; Okamoto, Y.; Pehlivan, D.; Matur, Z.; Akyüz, K.; Battaloglu, E. 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 64 KB

Novel mutation of SACS gene in a Spanish

Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

✍ Chiara Criscuolo; Francesco Saccà; Giuseppe De Michele; Pietro Mancini; Onofre C 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 215 KB

## Abstract Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early‐onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We repor

A novel mutation of the fumarase gene in

A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency

✍ Anne M. Remes; Sirpa A. Filppula; Heikki Rantala; Jaakko Leisti; Aimo Ruokonen; 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 486 KB

A New Autosomal Recessive Form of Stickl

A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene

✍ Guy Van Camp; Rikkert L. Snoeckx; Nele Hilgert; Jenneke van den Ende; Hisakumi F 📂 Article 📅 2006 🏛 American Society of Human Genetics 🌐 English ⚖ 427 KB

New description of a family with an auto

New description of a family with an autosomal recessive cathecholergic ventricular tachycardia due to Triadin gene

✍ Rooryck-Thambo, C.; Kyndt, F.; Roux-Buisson, N.; Sacher, F.; Ritter, P.; Probst, 📂 Article 📅 2014 🏛 Elsevier 🌐 English ⚖ 58 KB

Variability of disease progression in a

Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene

✍ H Azzedine; M Ruberg; D Ente; C Gilardeau; S Périé; B Wechsler; A Brice; E LeGue 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 169 KB