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Sequential muscle biopsy changes in a case of congenital myopathy

Corresponding Author

Moris J. Danon MD

Department of Neurology, New York Medical College, Munger Pavilion, Valhalla, New York, 10595, USA

Department of Pathology, New York Medical College, Valhalla, New York, USA

Department of Neurology, New York Medical College, Munger Pavilion, Valhalla, New York, 10595, USA; Department of Pathology, New York Medical College, Valhalla, New York, USASearch for more papers by this author

Carol S. Giometti PhD,

Carol S. Giometti PhD

Division of Biological, Environmental, and Medical Research, Argonne National Laboratories, Argonne, Illinois, USA

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Jose R. Manaligod MD, PhD,

Jose R. Manaligod MD, PhD

Department of Pathology, University of Illinois College of Medicine, Chicago, Illinois, USA

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Charles Swisher MD,

Charles Swisher MD

Division of Pediatric Neurology, Children's Memorial Hospital, Chicago, Illinois, USA

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Moris J. Danon MD,

Corresponding Author

Moris J. Danon MD

Department of Neurology, New York Medical College, Munger Pavilion, Valhalla, New York, 10595, USA

Department of Pathology, New York Medical College, Valhalla, New York, USA

Carol S. Giometti PhD,

Carol S. Giometti PhD

Division of Biological, Environmental, and Medical Research, Argonne National Laboratories, Argonne, Illinois, USA

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Jose R. Manaligod MD, PhD,

Jose R. Manaligod MD, PhD

Department of Pathology, University of Illinois College of Medicine, Chicago, Illinois, USA

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Charles Swisher MD,

Charles Swisher MD

Division of Pediatric Neurology, Children's Memorial Hospital, Chicago, Illinois, USA

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First published: 07 December 1998

https://doi.org/10.1002/(SICI)1097-4598(199705)20:5<561::AID-MUS4>3.0.CO;2-7

Citations: 18

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Abstract

Muscle biopsies at age 7 months in a set of dizygotic male twins born floppy showed typical features of congenital fiber-type disproportion (CFTD). One of the twins died at age 1 year due to respiratory complications. The second one subsequently developed facial diplegia and external ophthalmoplegia. He never walked, remained wheelchair bound, and required continuous ventilatory support. He underwent repeat biopsies at ages 2 and 4, which showed many atrophic type 1 muscle fibers containing central nuclei and severe type 2 fiber deficiency compatible with centronuclear myopathy (CNM). Two-dimensional gel electrophoresis of muscle showed decreases of type II myosin light chains 2 and 3, suggestive of histochemical type I fiber deficiency. The progressive nature of morphological changes in one of our patients cannot be explained by maturational arrest. Repeat biopsies in cases of CFTD with rapid clinical deterioration may very well show CNM. © 1997 John Wiley & Sons, Inc. Muscle Nerve, 20, 561–569, 1997.

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Volume20, Issue5

May 1997

Pages 561-569

Sequential muscle biopsy changes in a case of congenital myopathy

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Sequential muscle biopsy changes in a case of congenital myopathy

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