FSHD / OPMD / EDMD / DMI

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Recently, a new phenotype named the early onset recessive Emery-Dreifuss-like phenotype without cardiomyopathy was reported. The pathological gene responsible for the phenotype was located in TTN gene. Herein, we would like to report a Chinese patient with similar clinical manifestations. A 12 years old boy complained about mild difficulties in climbing and standing up from the ground since the age of 6, and muscle weakness progressed slowly with time. When he came to our clinic, he had lost the ability of walking on the heel.

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