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EnglishThe 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.
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| Titolo: | LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy | |
| Autori: | ||
| Data di pubblicazione: | 2004 | |
| Rivista: | ||
| 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. | |
| Handle: | http://hdl.handle.net/11571/1349242 | |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
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