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 ... Cached
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 ... Related articles - All 2 versions
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 your privacy and will not share your personal information without your express consent. For more information, please refer to our Privacy Policy. ... Skip Navigation Links Home > Current ... Related articles - All 3 versions
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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