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NEUROLOGY 2004;63:1118-1121
© 2004 American Academy of Neurology
Brief Communications

LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy

P. Prandini, PhD, A. Berardinelli, MD, M. Fanin, PhD, F. Morello, MS, E. Zardini, MS, A. Pichiecchio, MD, C. Uggetti, MD, G. Lanzi, MD, C. Angelini, MD and E. Pegoraro, MD PhD

From the Neuromuscular Center (Drs. Prandini, Fanin, Angelini, and Pegoraro), Department of Neurosciences, University of Padova, Italy; and Regional Referral Center for Neuromuscular Disorders in Childhood (Drs. Berardinelli, Morello, Zardini, and Lanzi) and Child Neuroradiology (Drs. Pichiecchio and Uggetti), IRCCS C. Mondino Institute of Neurology, University of Pavia, Italy.

Address correspondence and reprint requests to Dr. Elena Pegoraro, Neuromuscular Center, Department of Neurosciences, University of Padova, 35128 Padova, Italy; e-mail: elena.pegoraro{at}unipd.it

The authors report a girl with autosomal recessive congenital muscular dystrophy linked to chromosome 6 (MDC1A) who carries a homozygous out-of-frame deletion in exon 56 of the LAMA2 gene but has a mild phenotype. She is still ambulant at age 13 years, shows white matter abnormalities on MRI, and traces of laminin {alpha}2 in her muscle biopsy with one of three antibodies used. This patient suggests that modulating factors can be associated with a less severe clinical phenotype in MDC1A.

Received February 13, 2004. Accepted in final form May 17, 2004.




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C. Di Blasi, D. Piga, P. Brioschi, I. Moroni, A. Pini, A. Ruggieri, S. Zanotti, G. Uziel, L. Jarre, E. Della Giustina, et al.
LAMA2 Gene Analysis in Congenital Muscular Dystrophy: New Mutations, Prenatal Diagnosis, and Founder Effect
Arch Neurol, October 1, 2005; 62(10): 1582 - 1586.
[Abstract] [Full Text] [PDF]


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