Literature DB >> 1822806

X-linked and FSH dystrophies in one family.

B R Lecky1, J M MacKenzie, A P Read, D E Wilcox.   

Abstract

A family is reported in which the father was affected by facioscapulohumeral muscular dystrophy FSHD. One son was affected by Duchenne muscular dystrophy (DMD). The second son died at the age of 3 yr of a severe primary muscle disease and it is suggested that this was the outcome of dual expression of the two conditions.

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Mesh：

Year:  1991        PMID： 1822806     DOI： 10.1016/0960-8966(91)90101-w

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


  7 in total

1.  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

2.  De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).

Authors:  P E Jardine; M C Koch; P W Lunt; J Maynard; K D Bathke; P S Harper; M Upadhyaya
Journal:  Arch Dis Child       Date:  1994-09       Impact factor: 3.791

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

4.  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

5.  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

6.  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

7.  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
  7 in total

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