Multi-Minicore and Central Core Disease

J Gordon Millichap

doi:10.15844/pedneurbriefs-16-6-9

Multi-Minicore and Central Core Disease

Pediatric Neurology Briefs

Volume 16 (2002): Issue 6

By: J Gordon Millichap

Open Access

|Jun 2002

Abstract

A genome-wide screening was conducted in a consanguinous Algerian family with 3 children with multicore disease at the Groupe Hospitalier Pitie-Salpetriere, Paris, France, and other centers.

References

Ferreiro A Monnier N Romero NB Leroy JP Bönnemann C Haenggeli CA A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene Ann Neurol 2002 Jun 51 6 750 9 10.1002/ana.10231 12112081
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Abicht A Stucka R Schmidt C Briguet A Höpfner S Song IH A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome Brain 2002 May 125 Pt 5 1005 13 10.1093/brain/awf095 11960891
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Pruitt JN 2nd Swift TR Therapies for disorders of the neuromuscular junction Arch Neurol 2002 May 59 5 739 42 10.1001/archneur.59.5.739 12020254
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-16-6-9 | Journal eISSN: 2166-6482

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Language: English

Page range: 46 - 47

Published on: Jun 1, 2002

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Ryanodine Receptor Type,

Axial Weakness,

Homozygous Missense Mutation

© 2002 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 16 (2002): Issue 6