Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats

OBJECTIVE: To examine the relationship of clinical and genetic features of patients with facioscapulohumeral muscular dystrophy (FSHD) with 7–10 residual D4Z4 repeats in a large genetically defined FSHD1 cohort. METHODS: We performed a prospective cross-sectional observational study of 74 clinically...

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Vydáno v:Neurology
Hlavní autoři: Statland, Jeffrey M., Donlin-Smith, Colleen M., Tapscott, Stephen J., Lemmers, Richard J.L.F., van der Maarel, Silvère M., Tawil, Rabi
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4691686/
https://ncbi.nlm.nih.gov/pubmed/26561289
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002217
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