Severe CMD with Novel Mutation in Lamin A/C Gene

J Gordon Millichap

doi:10.15844/pedneurbriefs-24-11-9

Severe CMD with Novel Mutation in Lamin A/C Gene

Pediatric Neurology Briefs

Volume 24 (2010): Issue 11

By: J Gordon Millichap

Open Access

|Nov 2010

Abstract

Researchers at Queen Fabiola Children’s University Hospital, Brussels, Belgium, report a 7-year-old Belgian boy with a 5 months-onset congenital muscular dystrophy and laminopathy caused by a de novo heterozygous LMNA gene mutation.

References

Prigogine C Richard P Van den Bergh P Groswasser J Deconinck N Novel LMNA mutation presenting as severe congenital muscular dystrophy Pediatr Neurol 2010 Oct 43 4 283 6 10.1016/j.pediatrneurol.2010.05.016 20837309
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Quijano-Roy S Mbieleu B Bönnemann CG Jeannet PY Colomer J Clarke NF De novo LMNA mutations cause a new form of congenital muscular dystrophy Ann Neurol 2008 Aug 64 2 177 86 10.1002/ana.21417 18551513
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-24-11-9 | Journal eISSN: 2166-6482

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Language: English

Page range: 88 - 88

Published on: Nov 1, 2010

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Axial Muscles,

Distal Lower Extremities,

Dystrophic Pattern

© 2010 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 24 (2010): Issue 11