Nemaline myopathy with severe neonatal hypotonia and total ophthalmoplegia: A case report

Journal of Pediatric Ophthalmology and Strabismus

Volumn 35, Issue 3, 1998, Pages 174-176

  Wilson, Martin C ^a   Kolsky, Martin P ^b   Chandra, Roma ^c  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b WASHINGTON HOSPITAL CENTER   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; EXTRAOCULAR MUSCLE; FEMALE; HUMAN; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEMALINE MYOPATHY; OPHTHALMOPLEGIA; PTOSIS;

BIOPSY; BLEPHAROPTOSIS; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT, NEWBORN; MUSCLE HYPOTONIA; MUSCLE, SKELETAL; MYOPATHIES, NEMALINE; OPHTHALMOPLEGIA; PEDIGREE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0031781259     PISSN: 01913913     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. Shy GM, Engel WK, Somers JE, Wanko T. Nemaline myopathy: a new congenital myopathy. Brain. 1963;79:793-810.
2. Conen PE, Murphy EG, Donohue WL. Light and electron microscopic studies of 'myogranules' in a child with hypotonia and muscle weakness. Can Med Assoc J. 1963;89:983-986.
3. Shafiq SA, Dubowitz V, Peterson HC, Milhorat AT. Nemaline myopathy: report of a fatal case with histochemical and electron microscopic studies. Brain. 1967;90:817-828.
4. Fukunaga H, Osame M, Igata A. A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities. J Neurol Sci. 1980;46:169-177.
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