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Semin Pediatr Neurol. 2011 Dec;18(4):264-71. doi: 10.1016/j.spen.2011.10.008.

Congenital fiber-type disproportion.

Author information

1
Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, Discipline of Paediatrics & Child Health, University of Sydney, Westmead, New South Wales, Australia. nigel.clarke@health.nsw.gov.au

Abstract

Congenital fiber-type disproportion is a form of congenital myopathy that may be best viewed as a syndrome rather than as a formal diagnosis. The central histologic abnormality is that type 1 fibers are consistently smaller than type 2 fibers by at least 35%-40%. Care is needed in diagnosing patients, as this histologic abnormality can occur in other congenital myopathies and in other neuromuscular disorders. Many of the genetic causes have been identified. Careful surveillance of respiratory function is required in all patients until the specific genetic cause is known and advice can be individualized.

PMID:
22172422
DOI:
10.1016/j.spen.2011.10.008
[Indexed for MEDLINE]

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