Phenotype #0000362727

Individual ID 00478126
Associated disease CNMX
Phenotype details Progressive proximal muscle weakness, facial involvement, hypotonia since childhood, delayed motor milestones, loss of independent ambulation in adulthood, scapular winging, kyphoscoliosis, dysphagia. Muscle MRI shows diffuse fatty infiltration. Muscle biopsy demonstrates fibro-fatty replacement without classical centronuclear features.
Diagnosis/Initial Undiagnosed myopathy
Inheritance Familial, X-linked
Diagnosis/Definite CNMX
Age/Examination <01y (before 1 year)
Age/Diagnosis 49y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Arystan Zhakupbekov
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Arystan Zhakupbekov
Date created 2026-05-03 00:53:36 +02:00 (CEST)
Date last edited 2026-05-04 11:28:01 +02:00 (CEST)

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