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A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.
Sumner, Charlotte J; d'Ydewalle, Constantin; Wooley, Joe; Fawcett, Katherine A; Hernandez, Dena; Gardiner, Alice R; Kalmar, Bernadett; Baloh, Robert H; Gonzalez, Michael; Züchner, Stephan; Stanescu, Horia C; Kleta, Robert; Mankodi, Ami; Cornblath, David R; Boylan, Kevin B; Reilly, Mary M; Greensmith, Linda; Singleton, Andrew B; Harms, Matthew B; Rossor, Alexander M; Houlden, Henry.
Affiliation
  • Sumner CJ; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA; Department of Neuroscience, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA. Electronic address: csumner1@jhmi.edu.
Am J Hum Genet ; 93(5): 976-83, 2013 Nov 07.
Article in En | MEDLINE | ID: mdl-24207122
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Atrophy, Spinal / Mutation, Missense / F-Box Proteins Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2013 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Atrophy, Spinal / Mutation, Missense / F-Box Proteins Type of study: Etiology_studies / Prognostic_studies Limits: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Am J Hum Genet Year: 2013 Type: Article