Literature DB >> 9585333

The devastating combination of Charcot-Marie-Tooth disease and facioscapulohumeral muscular dystrophy.

C M Bütefisch1, D F Lang, L Gutmann.   

Abstract

A patient with both Charcot-Marie-Tooth (type la) disease and facioscapulohumeral muscular dystrophy inherited these from her father and mother, respectively. Either disease alone does not significantly alter life expectancy, but the unusual combination of these two disease processes was devastating and resulted in severe generalized weakness and early death.

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Year:  1998        PMID： 9585333     DOI： 10.1002/(sici)1097-4598(199806)21:6<788::aid-mus11>3.0.co;2-p

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


  6 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
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2.  A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.

Authors:  Byung-Ok Choi; Sung Hee Kang; Young Se Hyun; Sumaria Kanwal; Sun Wha Park; Heasoo Koo; Sang-Beom Kim; Young-Chul Choi; Jeong Hyun Yoo; Jong-Won Kim; Kee Duk Park; Kyoung-Gyu Choi; Song Ja Kim; Stephan Züchner; Ki Wha Chung
Journal:  Hum Mutat       Date:  2011-04-07       Impact factor: 4.878

3.  17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.

Authors:  Wilson Marques; Marcos R Freitas; Osvaldo J M Nascimento; Acary B Oliveira; Leandro Calia; Ailton Melo; Rita Lucena; Vera Rocha; Amilton A Barreira
Journal:  J Neurol       Date:  2005-03-18       Impact factor: 4.849

4.  Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient.

Authors:  Raquel M Fernández; Ana Peciña; Beatriz Muñoz-Cabello; Guillermo Antiñolo; Salud Borrego
Journal:  Clin Case Rep       Date:  2016-08-09

5.  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

6.  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
  6 in total

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