Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family.
نویسندگان
چکیده
منابع مشابه
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals
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متن کاملEmery dreifuss muscular dystrophy: a clinico-pathological study.
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.
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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...
متن کاملPerinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy.
Introduction Autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) is rare compared with other forms of muscular dystrophy and is characterized by cardiac conduction defects. Here, we present the case of a patient diagnosed with AD-EDMD during the first trimester of pregnancy who developed acute preeclampsia and subsequently, congestive heart failure (CHF) following cesarean section. C...
متن کاملA Mutation in Lamin A/C Gene Previously Known to Cause Emery- Driefuss Muscular Dystrophy Causing A Phenotype of Limb Girdle Muscular Dystrophy Type 1B
Mutations in the lamin protein(found in the nuclear envelope) known to cause different allelic disorders including limb girdle muscular dystrophies (LGMD) and Emery-Dreifuss muscular dystrophy (EDMD). LGMDs are a heterogeneous group of disorders with progressive proximal muscle weakness in an autosomal inheritance pattern. LGMD type 1B is a disorder secondary to a mutation in the gene encoding ...
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ورودعنوان ژورنال:
- Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit
دوره 13 1 شماره
صفحات -
تاریخ انتشار 2007