Phenotype #0000355773

Individual ID 00470890
Associated disease MYOP
Diagnosis/Initial muscle weakness
Diagnosis/Definite CMYO4A
Phenotype details see paper; ..., 53y-deceased (lung cancer); normal motor development; 4y-difficulties unning, falling frequently; 16y-bilateral Achilles tendon release; 20y-unable climb stairs; 48y-wheelchair bound; proximal muscle weakness arm, diminished handgrip strength; 51y-difficulties swallowing, nocturnal hypoventilation
Inheritance Unknown
Age/Examination 53y (53 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Joanna Moraczewska
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-12-12 16:00:59 +01:00 (CET)
Date last edited 2025-12-12 16:03:40 +01:00 (CET)

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