Phenotype #0000358647

Individual ID 00473852
Associated disease MD
Phenotype details Hypotonia since birth; Myopathic face; Generalized muscle weakness; Tremor, generalized; Lordosis; Winged scapula; Abnormality of gait; EMG-NCV: myopathic process; Muscle biopsy: slight type 1 fiber predominance, atrophy with no necrosis and regeneration or specific structural abnormality but prominent peripheral cluster of mitochondria.
Diagnosis/Initial muscular dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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