Emery Dreifuss muscular dystrophy masquerading as limb girdle muscular dystrophy type 2 due to a novel mutation in emerin gene

• Author Details:   
• Somarajan Anandan ^*
• Sajeesh Rajendran
• Joesni Joy
• Sisira Sree Rajan

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Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscular dystrophy with frequent life-threatening cardiac complications. It classically presents with muscle weakness, early contractures, cardiac conduction abnormalities and cardiomyopathy. Atrial and ventricular tachyarrhythmias, atrial standstill and cardiomyopathy are the common cardiac manifestations and can precede significant skeletal muscle weakness. Here we describe a case of EDMD, initially misdiagnosed as limb girdle muscular dystrophy due to absence of elbow contracture. Our case is unique in that it is due to a novel mutation in exon 6 of EMD gene which is so far not reported from India.