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Quoted phrase not found in phrase index: "Congenital myopathy with reduced type 2 muscle fibers"
Page 1
Adult onset reducing body myopathy.
Figarella-Branger D, Putzu GA, Bouvier-Labit C, Pouget J, Chateau D, Fardeau M, Pellissier JF. Figarella-Branger D, et al. Neuromuscul Disord. 1999 Dec;9(8):580-6. doi: 10.1016/s0960-8966(99)00058-9. Neuromuscul Disord. 1999. PMID: 10619716
Serum creatine kinase levels were moderately elevated (x3 normal value) and EMG showed mixed neurogenic and myogenic patterns. Muscle biopsy showed type I predominance and numerous reducing bodies in muscle fibers. ...Granulofilamentous material …
Serum creatine kinase levels were moderately elevated (x3 normal value) and EMG showed mixed neurogenic and myogenic patterns. Muscle …
Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.
Martin F, Kana V, Mori AC, Fischer D, Parkin N, Boltshauser E, Rushing EJ, Klein A. Martin F, et al. Eur J Pediatr. 2014 Dec;173(12):1691-4. doi: 10.1007/s00431-014-2314-6. Epub 2014 Apr 8. Eur J Pediatr. 2014. PMID: 24706162
We describe a 5-year-old girl with marked hypotonia, poor feeding and reduced facial expression since birth. Congenital myopathy was suspected; muscle biopsy showed unspecific type 1 fibre predominance. ...CONCLUSION: NF1 is one of the mo …
We describe a 5-year-old girl with marked hypotonia, poor feeding and reduced facial expression since birth. Congenital myo …