Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome-Reference-Cited by-同舟云学术

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Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome

Published:2006-04 Issue:4 Volume:16 Page:282-285
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Kostera-Pruszczyk Anna,Opuchlik Andrzej,Ługowska Agnieszka,Nadaj Aleksandra,Bojakowski Jacek,Tylki-Szymanska Anna,Kaminska Anna

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. Rigid spine syndrome: a muscle syndrome in search of a name;Dubowitz;Proc R Soc Med,1973

2. Presence of emerinopathy in cases of rigid spine syndrome;Kubo;Neuromuscul Disord,1998

3. Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome;Moghadaszadeh;Neuromuscul Disord,1999

4. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies;Ferreiro;Am J Hum Genet,2002

5. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome;Moghadaszadeh;Nat Genet,2001

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