Format

Send to

Choose Destination

See 1 citation found by title matching your search:

J Child Neurol. 2014 Feb;29(2):254-9. doi: 10.1177/0883073813511858. Epub 2013 Dec 11.

A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.

Author information

1
1Department of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Abstract

Spinal muscular atrophy is an autosomal-recessive neuromuscular disorder, causing progressive proximal weakness and atrophy of the voluntary muscles. More than 96% of the spinal muscular atrophy patients show a homozygous absence of exons 7 and 8, or exon 7 only, in SMN1, the telomeric copy of the SMN gene. We report a young male patient with neurogenic symptoms and sparse muscle fiber atrophy, suggestive of a mild form of type III spinal muscular atrophy. He was found to be a carrier of intragenic mutations in both copies of the SMN gene, exhibiting a homozygous duplication of exons 7 and 8 in SMN1 and a homozygous deletion of exon 8 as well as a heterozygous deletion of exon 7 in SMN2. However, an intact full-length SMN1 complementary deoxyribonucleic acid was identified, and SMN protein levels in a muscle specimen were identical to that of a healthy control, formally excluding the diagnosis of spinal muscular atrophy III.

KEYWORDS:

SMN1 gene; SMN2 gene; deletion; duplication; spinal muscular atrophy

PMID:
24334346
DOI:
10.1177/0883073813511858
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Atypon
Loading ...
Support Center