Clinical and histologic changes in the follow-up of a congenital myopathy

Pediatric Neurology

Volumn 33, Issue 2, 2005, Pages 139-141

  Camacho, Ana ^a   Villarejo, Alberto ^a   Simón, Rogelio ^a   Mateos, Fernando ^a   Cabello, Ana ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

OXIDOREDUCTASE;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; ENZYME ACTIVITY; FACE DYSMORPHIA; FEMALE; FOLLOW UP; HISTOPATHOLOGY; HUMAN; LABORATORY TEST; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE HYPERTONIA; MUSCLE WEAKNESS; OPHTHALMOPLEGIA; PRIORITY JOURNAL; THOMSEN DISEASE;

ADOLESCENT; ADULT; BIOPSY; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; MUSCLE FIBERS, FAST-TWITCH; MUSCLE FIBERS, SLOW-TWITCH; MUSCLE HYPOTONIA; MUSCLE, SKELETAL;

EID: 23644457974     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2005.02.012     Document Type: Article

References (15)

1. A.L. Taratuto Congenital myopathies and related disorders Curr Opin Neurol 14 2002 553 561
2. M.H. Brooke Congenital fibre type disproportion Excerpta Medica 295 1973 147 159
3. M. Jaffe, J. Shapira, Z. Borochowitz Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance Clin Genet 33 1988 33 37
4. P.Y. Jeannet, G. Bassez, B. Eymard Clinical and histologic findings in autosomal centronuclear myopathy Neurology 62 2004 1484 1490
5. R.R. Clancy, K.A. Kelts, J.W. Oehlert Clinical variability in congenital fiber type disproportion J Neurol Sci 46 1980 257 266
6. S. Carpenter Abnormalities in nuclear positioning (centronuclear myopathies) G. Karpati Pathology and genetics The structural and molecular basis of skeletal muscle diseases 2002 ISN Neuropath Press Basel 57 59
7. A. Cabello, J.R. Ricoy-Campo Congenital myopathies (in Spanish) Rev Neurol 37 2003 779 786
8. J.R. Ricoy, A. Cabello Hypotrophy of type I fibres with central nuclei Recovery 4 years after diagnosis J Neurol Neurosurg Psychiatry 48 1985 167 171
9. W.D. Lo, R.J. Barohn, R.J. Bobulski, J. Kean, J.R. Mendell Centronuclear myopathy and type-1 hypotrophy without central nuclei. Distinct nosologic entities? Arch Neurol 47 1990 273 276
10. M.J. Danon, C.S. Giometti, J.R. Manaligod, C. Swisher Sequential muscle biopsy changes in a case of congenital myopathy Muscle Nerve 20 1997 561 569
11. P.F. Van der Ven, P.H. Jap, R.H. Wetzels Posnatal centralization of muscle fibre nuclei in centronuclear myopathy Neuromuscul Disord 1 1991 211 220
12. N.F. Clarke, K.N. North Congenital fiber type disproportion - 30 years on J Neuropathol Exp Neurol 62 2003 977 989
13. M.G. Bartholomeus, F.J. Gabreels, H.J. ter Laak, B.G. Van Engelen Congenital fibre type disproportion a time-locked diagnosis A clinical and morphological follow-up study Clin Neurol Neurosurg 102 2000 97 101
14. J. Laporte, W. Kress, J.L. Mandel Diagnosis of X-linked myotubular myopathy by detection of myotubularin Ann Neurol 50 2001 42 46
15. L. Tiret, S. Blot, J.L. Kessler, H. Gaillot, M. Breen, J.J. Panthier The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2 Hum Genet 113 2003 297 306