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Case 45 - Emery–Dreifuss Muscular Dystrophy (EDMD)
from Myopathies
Jessica E. Hoogendijk, University Medical Center Utrecht, Marianne de Visser, Amsterdam University Medical Center, Pieter A. van Doorn, Erasmus MC, University Medical Center, Rotterdam, Erik H. Niks, Leiden University Medical Center
Book:

Neuromuscular Disease

Print publication:

19 December 2024, pp 198-199
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Summary

A 24-year-old man is the youngest of five children and of Turkish origin, who since the age of five years had noticed that he was not able to fully extend his arms. Furthermore, his Achilles tendons were taut. His previous history was unremarkable. An older brother had similar symptoms. Both had no cardiac symptoms. His parents were not affected.