Literature DB >> 17060574

Diagnostic challenges in facioscapulohumeral muscular dystrophy.

S Sacconi1, L Salviati, I Bourget, D Figarella, Y Péréon, R Lemmers, S van der Maarel, C Desnuelle.   

Abstract

The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be difficult due to its clinical variability and complex genetic cause. We present three challenging cases: one misdiagnosis of FSHD, one patient with FSHD resembling mitochondrial myopathy, and one patient with combined FSHD and limb girdle muscular dystrophy 2A. Detailed clinical and genetic evaluation, including 4qA/4qB allele determination, may be needed for the diagnosis of FSHD.

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Year:  2006        PMID： 17060574     DOI： 10.1212/01.wnl.0000240071.62540.6f

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  7 in total

1.  Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population.

Authors:  Miri Yanoov-Sharav; Esther Leshinsky-Silver; Sarit Cohen; Chana Vinkler; Marina Michelson; Tally Lerman-Sagie; Mira Ginzberg; Menahem Sadeh; Dorit Lev
Journal:  J Genet Couns       Date:  2011-11-23       Impact factor: 2.537

2.  Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.

Authors:  Zhi-Qiang Wang; Ning Wang; Silvere van der Maarel; Shen-Xing Murong; Zhi-Ying Wu
Journal:  Eur J Hum Genet       Date:  2010-08-25       Impact factor: 4.246

3.  The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

Authors:  Sabrina Sacconi; Richard J L F Lemmers; Judit Balog; Patrick J van der Vliet; Pauline Lahaut; Merlijn P van Nieuwenhuizen; Kirsten R Straasheijm; Rashmie D Debipersad; Marianne Vos-Versteeg; Leonardo Salviati; Alberto Casarin; Elena Pegoraro; Rabi Tawil; Egbert Bakker; Stephen J Tapscott; Claude Desnuelle; Silvère M van der Maarel
Journal:  Am J Hum Genet       Date:  2013-09-26       Impact factor: 11.025

4.  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

5.  Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

Authors:  Sabrina Sacconi; Pilar Camaño; Jessica C de Greef; Richard J L F Lemmers; Leonardo Salviati; Pascal Boileau; Adolfo Lopez de Munain Arregui; Silvère M van der Maarel; Claude Desnuelle
Journal:  J Med Genet       Date:  2011-10-07       Impact factor: 6.318

6.  Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy.

Authors:  Peter Reilich; Nicolai Schramm; Benedikt Schoser; Peter Schneiderat; Nicola Strigl-Pill; Josef Müller-Höcker; Wolfram Kress; Andreas Ferbert; Sabine Rudnik-Schöneborn; Johannes Noth; Hanns Lochmüller; Joachim Weis; Maggie C Walter
Journal:  J Neurol       Date:  2010-02-10       Impact factor: 4.849

Review 7.  Myopathology of Adult and Paediatric Mitochondrial Diseases.

Authors:  Rahul Phadke
Journal:  J Clin Med       Date:  2017-07-04       Impact factor: 4.241
  7 in total

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