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Quoted phrase not found in phrase index: "Myopathy, distal, infantile-onset"
Page 1
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.
Piñol-Ripoll G, Shatunov A, Cabello A, Larrodé P, de la Puerta I, Pelegrín J, Ramos FJ, Olivé M, Goldfarb LG. Piñol-Ripoll G, et al. Neuromuscul Disord. 2009 Jun;19(6):418-22. doi: 10.1016/j.nmd.2009.04.004. Epub 2009 May 9. Neuromuscul Disord. 2009. PMID: 19433360 Free PMC article.
Neurological examination revealed rapidly progressive bilateral facial weakness, winging of the scapulae, symmetric weakness and atrophy of the trunk muscles, shoulder girdle and distal muscles of both upper and lower extremities. Muscle biopsy demonstrated signs of myofib …
Neurological examination revealed rapidly progressive bilateral facial weakness, winging of the scapulae, symmetric weakness and atrophy of …
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.
Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R. Voit T, et al. Neuromuscul Disord. 2001 Jan;11(1):11-9. doi: 10.1016/s0960-8966(00)00158-9. Neuromuscul Disord. 2001. PMID: 11166161
(Am J Hum Genet 56(1995)422) described a single family with nine members affected by an autosomal dominant infantile onset distal myopathy. This family generated a LOD score of 2.6 for a locus on chromosome 14. We describe two families with an …
(Am J Hum Genet 56(1995)422) described a single family with nine members affected by an autosomal dominant infantile onset …