nemaline myopathy, rod myopathy 是什么意思，中文意思 | 线状体肌病，又称“棒状体肌病”英文怎么说医学英语中英文词汇翻译

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Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

MW Lawlor, CA Ottenheijm… - Skeletal …, 2011 - skeletalmusclejournal.com
We describe two siblings with severe NM, arthrogryposis and neonatal death due to two novel
NEB mutations; a point mutation in intron 13 and a frameshift mutation in exon 81. Levels of detectable
nebulin protein were significantly lower than those in normal control muscle biopsies or ...
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Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

VL Lehtokari, K Pelin, A Herczegfalvi… - Neuromuscular …, 2011 - Elsevier
Mutations in the nebulin gene are the main cause of autosomal recessive nemaline
myopathy, with clinical presentations ranging from mild to severe disease. We have previously
reported a nonspecific distal myopathy caused by homozygous missense mutations in the ...
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A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

G Ravenscroft, JM Wilmshurst, K Pillay… - Neuromuscular …, 2011 - Elsevier
We describe a severe congenital myopathy patient of Xhosa native African origin with a novel
de novo p.Gly152Ala skeletal muscle α-actin gene (ACTA1) mutation, who died at 6 months of
age. The muscle pathology demonstrated abundant cytoplasmic and intranuclear rods, ...
Cited by 1 - Related articles - All 3 versions

Inspiratory muscle training in a child with nemaline myopathy and organ transplantation

BK Smith, MS Bleiweis, J Zauhar… - Pediatric Critical Care …, 2011 - journals.lww.com
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Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation

SY Kim, YE Park, HS Kim, CH Lee… - Journal of the …, 2011 - Elsevier
A twenty-year old male presented with diffuse limb muscle weakness and exertional dyspnea
since childhood. The diagnosis of nemaline myopathy was given based on the muscle pathology
findings that revealed nemaline rods on light and electron microscopy and discovery of a ...
Related articles - All 3 versions

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Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

Inspiratory muscle training in a child with nemaline myopathy and organ transplantation

Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation