Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. [electronic resource]
Producer: 20120501Description: 605-10 p. digitalISSN:- 1097-4598
- Age of Onset
- Animals
- Biopsy
- Creatine Kinase -- blood
- Diplopia -- etiology
- Disease Progression
- Exome -- genetics
- Female
- Frameshift Mutation
- Gait Disorders, Neurologic -- etiology
- Heart Diseases -- etiology
- Humans
- Lamin Type A -- genetics
- Middle Aged
- Molecular Sequence Data
- Muscle, Skeletal -- physiology
- Muscular Dystrophy, Emery-Dreifuss -- diagnosis
- Mutation -- genetics
- Pedigree
- Sequence Analysis, DNA
- Xenopus -- genetics
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Publication Type: Case Reports; Journal Article
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