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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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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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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
BK Smith, MS Bleiweis, J Zauhar… - Pediatric Critical Care …, 2011 - journals.lww.com
Wolters Kluwer Health may email you for journal alerts and information, but is committed to maintaining
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information, please refer to our Privacy Policy. ... Skip Navigation Links Home > Current ...
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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 ...
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