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Ann Neurol. 1979 Feb;5(2):111-7.

Emery-Dreifuss muscular dystrophy.

Abstract

A man had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows. At age 25 he developed permanent atrial paralysis, and a cardiac pacemaker was inserted. Although this case was sporadic, most others have been transmitted as an X-linked recessive trait. Mixed patterns in electromyography and muscle histology have caused nosological confusion, but the unique clinical signs seem to define a distinct form of muscular dystrophy, warranting the designation "emery-Dreifuss" type.

PMID:
426473
DOI:
10.1002/ana.410050203
[Indexed for MEDLINE]

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