Literature DB >> 18586493

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy.

Lawrence Korngut1, Victoria M Siu, Shannon L Venance, Simon Levin, Peter Ray, Richard J L F Lemmers, Julia Keith, Craig Campbell.   

Abstract

This case report describes a young boy with concomitant genetically-confirmed Duchenne muscular dystrophy and facioscapulohumeral muscular dystrophy with a novel dystrophin mutation in exon 6 and a D4Z4 fragment of 31 kb. This child presented with a more severe phenotype than expected for either individual disease process and underscores the role for thorough diagnostic investigation in identifying atypical clinical presentations.

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Year:  2008        PMID： 18586493     DOI： 10.1016/j.nmd.2008.03.011

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


  9 in total

1.  Unusual association of FSHD and extramedullary thoracic tumour in the same patient: a case report.

Authors:  V Kazakov; D Rudenko; J Schulev; A Pozdnyakov
Journal:  Acta Myol       Date:  2009-10

2.  Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.

Authors:  Isabella Scionti; Francesca Greco; Giulia Ricci; Monica Govi; Patricia Arashiro; Liliana Vercelli; Angela Berardinelli; Corrado Angelini; Giovanni Antonini; Michelangelo Cao; Antonio Di Muzio; Maurizio Moggio; Lucia Morandi; Enzo Ricci; Carmelo Rodolico; Lucia Ruggiero; Lucio Santoro; Gabriele Siciliano; Giuliano Tomelleri; Carlo Pietro Trevisan; Giuliana Galluzzi; Woodring Wright; Mayana Zatz; Rossella Tupler
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

3.  Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears.

Authors:  G Ricci; M Zatz; R Tupler
Journal:  Curr Mol Med       Date:  2014       Impact factor: 2.222

Review 4.  A pediatric case report and literature review of facioscapulohumeral muscular dystrophy type1.

Authors:  Ting Xiao; Haiyan Yang; Siyi Gan; Liwen Wu
Journal:  Medicine (Baltimore)       Date:  2021-11-24       Impact factor: 1.817

5.  Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.

Authors:  Giulia Ricci; Isabella Scionti; Greta Alì; Leda Volpi; Virna Zampa; Marina Fanin; Corrado Angelini; Luisa Politano; Rossella Tupler; Gabriele Siciliano
Journal:  Neuromuscul Disord       Date:  2012-01-14       Impact factor: 4.296

6.  Facioscapulohumeral muscular dystrophy: Are telomeres the end of the story?

Authors:  Guido Stadler; Oliver D King; Jerome D Robin; Jerry W Shay; Woodring E Wright
Journal:  Rare Dis       Date:  2013-08-14

7.  Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.

Authors:  Olivia Schreiber; Peter Schneiderat; Wolfram Kress; Bernd Rautenstrauss; Jan Senderek; Benedikt Schoser; Maggie C Walter
Journal:  BMC Med Genet       Date:  2013-09-16       Impact factor: 2.103

8.  A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.

Authors:  Xiao-Dan Lin; Jun-Jie He; Feng Lin; Hai-Zhu Chen; Liu-Qing Xu; Wei Hu; Nai-Qing Cai; Min-Ting Lin; Ning Wang; Zhi-Qiang Wang; Guo-Rong Xu
Journal:  Chin Med J (Engl)       Date:  2018-09-20       Impact factor: 2.628

9.  Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.

Authors:  Emmanuelle Salort-Campana; Farzad Fatehi; Sadia Beloribi-Djefaflia; Stéphane Roche; Karine Nguyen; Rafaelle Bernard; Pascal Cintas; Guilhem Solé; Françoise Bouhour; Elisabeth Ollagnon; Sabrina Sacconi; Andoni Echaniz-Laguna; Thierry Kuntzer; Nicolas Levy; Frédérique Magdinier; Shahram Attarian
Journal:  Int J Mol Sci       Date:  2020-03-23       Impact factor: 5.923
  9 in total

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