Open Access Research article

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2

Claudia Di Blasi1, Emanuela Bellafiore1, Mustafa AM Salih2, M Chiara Manzini3, Steven A Moore4, Mohammed Z Seidahmed5, Maowia M Mukhtar6, Zein A Karrar7, Christopher A Walsh3, Kevin P Campbell8, Renato Mantegazza1, Lucia Morandi1 and Marina Mora1*

Author Affiliations

1 Division of Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy

2 Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia

3 Howard Hughes Medical Institute, Division of Genetics and Manton Center for Orphan Disease Research, Children's Hospital, Boston, MA 02115, USA

4 Department of Pathology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA

5 Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia

6 Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan

7 Department of Pediatrics and Child Health, College of Medicine, University of Khartoum, Khartoum, Sudan

8 Howard Hughes Medical Institute and Department of Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA

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BMC Research Notes 2011, 4:534  doi:10.1186/1756-0500-4-534

Published: 13 December 2011

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Additional file 1:

Table S1. Clinical findings.

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Additional file 2:

Figure S1. Sequencing of genomic DNA from control (A) and patient (B) showing the T > C transition at position +2 of the consensus donor splice site of exon 26. Direct sequencing of the cDNA revealing a 189 bp in-frame deletion, corresponding to aberrant skipping of the whole of exon 26: (C) control and (D) patient.

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