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

P. Prandini, A. Berardinelli, M. Fanin, F. Morello, E. Zardini, A. Pichiecchio, C. Uggetti, G. Lanzi, C. Angelini, Elena Pegoraro

Research output: Contribution to journalArticle

Abstract

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 α2 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.

Original languageEnglish
Pages (from-to)1118-1121
Number of pages4
JournalNeurology
Volume63
Issue number6
Publication statusPublished - Sep 29 2004

ASJC Scopus subject areas

  • Neuroscience(all)

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    Prandini, P., Berardinelli, A., Fanin, M., Morello, F., Zardini, E., Pichiecchio, A., Uggetti, C., Lanzi, G., Angelini, C., & Pegoraro, E. (2004). LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy. Neurology, 63(6), 1118-1121.