Limb-girdle muscular dystrophy due to emerin gene mutations.

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.