Centronuclear myopathy: Extraocular‐ and limb‐muscle findings in an adult

Myotube‐like structures were seen in extraocular and limb muscles in an adult with centronuclear myopathy. The limb‐muscle fibers were very small and were of a uniform histochemical type. Extrajunctional acetylcholine receptors were not seen with immunoperoxidase stains, and ultrastructurally normal neuromuscular junctions were seen in the extraocular‐muscle samples. Further studies on developing muscle are needed to identify possible mechanisms of arrest of muscle maturation.

[1]  A. Colling-Saltin.  Enzyme histochemistry on skeletal muscle of the human foetus , 1978, Journal of the Neurological Sciences.

[2]  W. Wilson,et al.  Histochemistry of human extraocular muscle. , 1978, Archives of ophthalmology.

[3]  R. Yee,et al.  Histochemistry and acetylcholine receptor distribution in normal and denervated monkey extraocular muscles , 1978, Neurology.

[4]  G. Serratrice,et al.  Centronuclear myopathy: Possible central nervous system origin , 1978, Muscle & nerve.

[5]  M. Diebler,et al.  Etude de la maturation histochimique, quantitative et ultrastructurale du muscle foetal humain , 1977, Journal of the Neurological Sciences.

[6]  M. B. Bender,et al.  Muscle fiber hypotrophy with intact neuromuscular junctions , 1977, Neurology.

[7]  W. Engel,et al.  Extrajunctional acetylcholine receptors. Alterations in human and experimental neuromuscular diseases. , 1976, Archives of neurology.

[8]  C. Hawkes,et al.  Myotubular myopathy associated with cataract and electrical myotonia. , 1975, Journal of neurology, neurosurgery, and psychiatry.

[9]  V. Ionasescu,et al.  Centronuclear myopathy: disease entity or a syndrome? Light- and electron-microscopic study of two cases and review of the literature. , 1972, Journal of the neurological sciences.

[10]  J. Mcleod,et al.  Centronuclear myopathy with autosomal dominant inheritance. , 1972, Journal of the neurological sciences.

[11]  D. Price,et al.  Familial centronuclear myopathy , 1970, Journal of neurology, neurosurgery, and psychiatry.

[12]  S. Carpenter,et al.  Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease. , 1970, Journal of the neurological sciences.

[13]  J. Bethlem,et al.  Familial “myotubular” myopathy , 1969, Neurology.

[14]  W. C. Hülsmann,et al.  Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube‐like structures , 1969, Neurology.

[15]  M. J. Campbell,et al.  Myotubular, centronuclear or Peri-Centronuclear myopathy? , 1969, Journal of the neurological sciences.

[16]  T. Munsat,et al.  Centronuclear ("myotubular") myopathy. , 1969, Archives of neurology.

[17]  Z. Kamieniecka.  The stages of development of human foetal muscles with reference to some muscular diseases. , 1968, Journal of the neurological sciences.

[18]  W. Engel,et al.  Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model. , 1968, Archives of neurology.

[19]  S. Aronson,et al.  Familial centronuclear myopathy , 1967, Neurology.

[20]  N. Gonatas,et al.  Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. , 1966, Archives of neurology.