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Neuromuscular Disorders
Volume 20, Issue 2
, Pages 128-130
, February 2010
Rigid spine syndrome revealing late-onset Pompe disease
References
- . Rigid spine syndrome: a muscle syndrome in search of a name. Pro R Soc Med. 1973;66:219–220
- Clinical and molecular genetic spectrum of autosomal dominant Emery–Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol. 2000;48(2):170–180
- 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. Am J Human Genet. 2002;71:739–749
- Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain gene (FHL1). Neuromuscul Disord. 2008;18:959–961
- Consequences of mutations within the C terminus of the FHL1 gene. Neurology. 2009;73:543–551
- Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol. 2009;65:83–89
- . The rigid spine syndrome due to acid maltase deficiency. Muscle Nerve. 1997;20:364–366
- Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome. Neuromuscul Disord. 2006;16:282–285
- Late onset Pompe disease: clinical and neruophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. 2007;17:698–706
- Recombinant human acid α-glucosidase: major clinical benefits in patients with infantile-onset Pompe disease. Neurology. 2007;68:99–109
- . Glycogen storage disease type II: acid α-glucosidase (Acid maltase) deficiency. In: Scriver CR, Beaudet AL, Valle D, Sly WS editor. The metabolic and molecular bases of inherited diseases. 8th ed.. New York: McGraw-Hill; 2001;p. 3389–3420
- Juvenile and adult-onset acid maltase deficiency in France: genotype–phenotype correlation. Clinical, histopathological, biochemical, and molecular studies in 22 patients. Neurology. 2000;55:1122–1128
PII: S0960-8966(09)00688-9
doi: 10.1016/j.nmd.2009.11.006
© 2009 Elsevier B.V. All rights reserved.
« Previous
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Neuromuscular Disorders
Volume 20, Issue 2
, Pages 128-130
, February 2010
