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Case 47 - Distal Myopathies: Miyoshi Myopathy, Dysferlinopathy; Anoctaminopathy
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

Published online:

29 November 2024

Print publication:

19 December 2024, pp 202-205
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Summary

A 24-year-old man complained of instability of his feet since the age of 16 years. From the age of 19 years onwards, he could no longer stand on tiptoe, and he experienced difficulties when playing basketball. At 20 years of age, his calves appeared to be thin. Gradually, he had some difficulty running, whereas he could climb the stairs and rise from a chair normally. He had no symptoms in his arms. The parents did not have similar problems.

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1 results

Case 47 - Distal Myopathies: Miyoshi Myopathy, Dysferlinopathy; Anoctaminopathy

Summary