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

Journal of Child Neurology
Laura Nanna LohkampWerner Stenzel

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.

References

Jan 1, 1992·Neuromuscular Disorders : NMD·T L Munsat, K E Davies
Jul 1, 1997·American Journal of Human Genetics·A H Burghes
Nov 5, 1998·European Journal of Human Genetics : EJHG·J E TaylorC G Mathew
Aug 27, 2003·European Journal of Human Genetics : EJHG·Shuji OginoRobert B Wilson
Oct 20, 2006·Neuromuscular Disorders : NMD·Eva L ArkbladMargareta Nordling

❮ Previous
Next ❯

Methods Mentioned

BETA
SMA
biopsy

Related Concepts

Related Feeds

Cajal Bodies & Gems

Cajal bodies or coiled bodies are dense foci of coilin protein. Gemini of Cajal bodies, or gems, are microscopically similar to Cajal bodies. It is believed that Cajal bodies play important roles in RNA processing while gems assist the Cajal bodies. Find the latest research on Cajal bodies and gems here.

Related Papers

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Wei-Liang LiuHai-Yan Li
Current Opinion in Pediatrics
Basil T Darras, Peter B Kang
Genetic Testing and Molecular Biomarkers
Patrícia de Campos PieriThelma Suely Okay
American Journal of Medical Genetics
S SrivastavaB Mittal
Annals of the Academy of Medicine, Singapore
Mandana HasanzadHossein Najmabadi
© 2021 Meta ULC. All rights reserved