Emery dreifuss muscular dystrophy: a clinico-pathological study.
نویسندگان
چکیده
Emery-Dreifuss muscular dystrophy (EDMD) is a rare and genetically heterogeneous disorder. We report two patients with emerin deficient X-linked EDMD and two probable patients with EDMD with typical early contractures, progressive muscle weakness and cardiac involvement. Family history was noted in one case. Muscle biopsy revealed features of dystrophy in all.
منابع مشابه
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
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Dubowics V. Muscle biopsy: a practical approach. 2nd ed. London: Bailliere Tindall, 1985:340-343 Consalez GG, Thomas NST, Stayton CL, et al. Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. Am J Hum Genet 199 1 ;48:468 -480 Yates JRW, Warner JP, Smith JA, et al. Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq2...
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ورودعنوان ژورنال:
- Neurology India
دوره 54 2 شماره
صفحات -
تاریخ انتشار 2006