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Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
Sacconi, Sabrina; Camaño, Pilar; de Greef, Jessica C; Lemmers, Richard J L F; Salviati, Leonardo; Boileau, Pascal; Lopez de Munain Arregui, Adolfo; van der Maarel, Silvère M; Desnuelle, Claude.
Affiliation
  • Sacconi S; Centre de référence des Maladies neuromusculaires and CNRS UMR6543, Nice University Hospital, Nice, France. sacconi@unice.fr
J Med Genet ; 49(1): 41-6, 2012 Jan.
Article in En | MEDLINE | ID: mdl-21984748
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Calpain / Adenosine Triphosphatases / Cell Cycle Proteins / Muscular Dystrophy, Facioscapulohumeral / Epigenesis, Genetic / Intracellular Signaling Peptides and Proteins / LIM Domain Proteins / Muscle Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2012 Type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Calpain / Adenosine Triphosphatases / Cell Cycle Proteins / Muscular Dystrophy, Facioscapulohumeral / Epigenesis, Genetic / Intracellular Signaling Peptides and Proteins / LIM Domain Proteins / Muscle Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: J Med Genet Year: 2012 Type: Article Affiliation country: France