Literature DB >> 17195938

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.

Sotiria D Mastroyianni1, Anastasia Garoufi, Konstantinos Voudris, Angeliki Skardoutsou, Constantinos J Stefanidis, Efstathia Katsarou, Rebecca Gooding, Luba Kalaydjieva.   

Abstract

Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN, MIM: 604168), is a recently delineated neurogenetic disease causing recurrent episodes of rhabdomyolysis; prevention and early diagnosis of rhabdomyolysis should be part of the clinical management of the disease.

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Year:  2006        PMID： 17195938     DOI： 10.1007/s00431-006-0307-9

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  6 in total

1.  Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations.

Authors:  I Tournev; L Kalaydjieva; B Youl; B Ishpekova; V Guergueltcheva; O Kamenov; M Katzarova; Z Kamenov; M Raicheva-Terzieva; R H King; K Romanski; R Petkov; A Schmarov; G Dimitrova; N Popova; M Uzunova; S Milanov; J Petrova; Y Petkov; G Kolarov; L Aneva; O Radeva; P K Thomas
Journal:  Ann Neurol       Date:  1999-06       Impact factor: 10.422

2.  Malignant hyperthermia and Marinesco-Sjögren syndrome.

Authors:  J U Walther; D Zafiriou; M Jensen
Journal:  Lancet       Date:  1991 Dec 21-28       Impact factor: 79.321

3.  Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.

Authors:  L Merlini; R Gooding; H Lochmüller; W Müller-Felber; M C Walter; D Angelicheva; B Talim; J Hallmayer; L Kalaydjieva
Journal:  Neurology       Date:  2002-01-22       Impact factor: 9.910

Review 4.  Rhabdomyolysis: a review.

Authors:  Jason D Warren; Peter C Blumbergs; Philip D Thompson
Journal:  Muscle Nerve       Date:  2002-03       Impact factor: 3.217

5.  Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.

Authors:  Raymonda Varon; Rebecca Gooding; Christina Steglich; Lorna Marns; Hua Tang; Dora Angelicheva; Kiau Kiun Yong; Petra Ambrugger; Anke Reinhold; Bharti Morar; Frank Baas; Marcel Kwa; Ivailo Tournev; Velina Guerguelcheva; Ivo Kremensky; Hanns Lochmüller; Andrea Müllner-Eidenböck; Luciano Merlini; Luitgard Neumann; Joachim Bürger; Maggie Walter; Kathryn Swoboda; P K Thomas; Arpad von Moers; Neil Risch; Luba Kalaydjieva
Journal:  Nat Genet       Date:  2003-09-21       Impact factor: 38.330

Review 6.  Mechanisms of rhabdomyolysis.

Authors:  J P Knochel
Journal:  Curr Opin Rheumatol       Date:  1993-11       Impact factor: 5.006
  6 in total
  2 in total

1.  Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome.

Authors:  Teodora Chamova; Dora Zlatareva; Margarita Raycheva; Stoyan Bichev; Luba Kalaydjieva; Ivailo Tournev
Journal:  Behav Neurol       Date:  2015-04-28       Impact factor: 3.342

2.  Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.

Authors:  Petra Lassuthova; Dana Sišková; Jana Haberlová; Iva Sakmaryová; Aleš Filouš; Pavel Seeman
Journal:  Orphanet J Rare Dis       Date:  2014-04-01       Impact factor: 4.123
  2 in total

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