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Shigehisa Ura, MD; Yukiko K. Hayashi, MD, PhD; Kanako Goto, MS; Mina Nolasco Astejada, MD; Terumi Murakami, MD; Masako Nagato, MD; Shigeru Ohta, MD; Yasuhisa Daimon, MD; Hidehiro Takekawa, MD, PhD; Koichi Hirata, MD, PhD; Ikuya Nonaka, MD, PhD; Satoru Noguchi, PhD; Ichizo Nishino, MD, PhD

Arch Neurol. 2007;64(7):1038-1041.

Background  Emery-Dreifuss muscular dystrophy, caused by EMD gene mutations, is characterized by humeroperoneal muscular dystrophy, joint contractures, and conduction defects and is often associated with sudden cardiac death, even without prior cardiac symptoms.

Objective  To describe the clinical and molecular features of 2 patients with limb-girdle muscular dystrophy with mutations in EMD.

Design  Case reports.

Setting  Academic research.

Patients  Two male patients manifested proximal dominant muscle involvement, with minimal or no joint and cardiac involvement.

Main Outcome Measures  Muscle biopsy and mutation analysis results.

Results  Immunohistochemistry revealed an absence of emerin staining in muscle biopsy specimens. Mutation analysis identified nonsense mutations in EMD.

Conclusions  Mutations in EMD may indicate a limb-girdle muscular dystrophy phenotype. Identification of emerin deficiency among patients with limb-girdle muscular dystrophy is essential to prevent cardiac catastrophe.

Author Affiliations: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo (Drs Ura, Hayashi, Astejada, Murakami, Nonaka, Noguchi, and Nishino and Ms Goto); Department of Pediatrics, Tenri Hospital, Nara (Drs Nagato and Ohta); and Department of Neurology, Dokkyo Medical University, Tochigi (Drs Daimon, Takekawa, and Hirata), Japan.

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