Phenotype #0000355774

Individual ID 00470891
Associated disease MYOP
Phenotype details see paper; ..., 6y-toe-walking, gradually falling behind peers running (progressively became unable to run); 16y-surgical correction bilateral Achilles tendon contractures; 40y-weakness upper extremities (difficulties lifting objects above shoulders, reduced handgrip strength), progressive exercise intolerance; 47y-uses motorised wheelchair; no respiratory complaints; father diagnosed with distal predominant nemaline myopathy
Diagnosis/Initial muscle weakness
Inheritance Familial, autosomal dominant
Diagnosis/Definite CMYO4A
Age/Examination 47y (47 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 16:07:46 +01:00 (CET)
Date last edited 2025-12-12 16:09:53 +01:00 (CET)

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