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Expanding the clinical spectrum of POMT1 phenotype

From the Unit of Molecular Medicine (A.D., A.T., S.P., F.M.S., E.B.), Department of Laboratory Medicine, IRCCS-Bambino Gesù Children's Hospital, Rome, Italy; Neuromuscular Unit, Department of Neuroscience and Rehabilitation and Department of Pediatric Neuroradiology, IRCCS-G. Gaslini Institute, Genoa, Italy (C.B., R.B., M. Pedemonte, A.F., A.R.); Child of Neurology Unit, Department of Pediatrics (M. Pane, E.M.) and Department of Neuroscience (E.R.), Catholic University, Rome, Italy.

Address correspondence and reprint requests to Dr. Filippo M. Santorelli, Molecular Medicine and Neurology, IRCCS Bambino Gesù Children's Hospital, Piazza S. Onofrio, 4, 00165 Rome, Italy; e-mail: fms3{at}na.flashnet.it.

Mutations in POMT1 have been identified in Walker–Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K). The authors report new POMT1 mutations in three unrelated children with severe motor impairment, leg hypertrophy, and mental retardation but without brain and ocular malformations. These patients are similar to LGMD2K but have earlier onset and more severe motor disability. The current findings expand the spectrum of POMT1-associated phenotypes.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the May 23 issue to find the title link for this article.

Commentary, see page 1461.

*These authors contributed equally to this work.

Research in the authors' laboratories is supported in part by grants from the Italian Ministry of Health (Ricerca Corrente e Finalizzata) to E.B. and C.B. and the Italian Ministry of Health 2003 on Limb Girdle Muscular Dystrophies to E.R. The authors also acknowledge the financial support of Telethon-Onlus (grant #GUP03558 to E.B. and E.M.).

Disclosure: The authors report no conflicts of interest.

Received August 1, 2005. Accepted in final form February 9, 2006.

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